Variant
CDKL5 Q219P
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro)
- p.Gln219Pro
- p.Q219P
- rs786204963
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 27 August 2025
- Expert panel
- ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
Q219P is a missense variant in CDKL5: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for CDKL5 Deficiency Disorder (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| CDKL5 Deficiency DisorderClinVar VCV000189549 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 27 August 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in CDKL5
Q219P lies in exon 9 of the 18 in CDKL5's MANE Select transcript, NM_001323289.2.
Molecular details
| Gene | CDKL5 |
|---|---|
| Transcript | NM_001323289.2MANE Select |
| Coding DNA change (HGVS c.) | c.656A>C |
| Protein change (HGVS p.) | p.Gln219Prop.Q219P |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chrX:18588055 A>C |
| Position (GRCh37) | chrX:18606175 A>C |
| dbSNP ID | rs786204963 (opens in a new tab) |
| ClinVar Variation ID | VCV000189549 (opens in a new tab) |
| ClinVar Allele ID | 187603 |
| ClinGen Allele Registry ID | CA199370 (opens in a new tab) |
| ClinVar name | NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) |
CDKL5 Q219P in other databases
Reports that look at this variant (1)
These Genome Test condition reports include Q219P among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Epilepsy (Full Panel) | CDKL5 Deficiency Disorder | X-linked dominant |
Other variants in CDKL5
- A40VPathogenic3 stars out of 4
- A157PLikely pathogenic3 stars out of 4
- A157VLikely pathogenic3 stars out of 4
- c.146-1G>APathogenic3 stars out of 4
- c.2151A>GLikely pathogenic3 stars out of 4
- C30YLikely pathogenic3 stars out of 4
- C152RLikely pathogenic3 stars out of 4
- D193GLikely pathogenic3 stars out of 4
- D193VLikely pathogenic3 stars out of 4
- E74XPathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). CDKL5 Q219P (c.656A>C, rs786204963) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/cdkl5/variants/q219p
Dante Labs. CDKL5 Q219P (c.656A>C, rs786204963) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cdkl5/variants/q219p
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