C30Y (p.Cys30Tyr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
C30Y (p.Cys30Tyr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- rs1555940536
- ClinGen CA412489863
- cosmic curated COSV10822
- ClinVar RCV000518084
- Uncertain significance
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.22
- MetaSVM -0.67
- CADD 29.30
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Uncertain significance (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)