Y24C (p.Tyr24Cys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
Y24C (p.Tyr24Cys) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- rs1922801133
- ClinGen CA412489792
- ClinVar RCV001253167
- ClinVar RCV005225332
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- MetaLR 0.36
- MetaSVM -0.15
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)