C152Y (p.Cys152Tyr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
C152Y (p.Cys152Tyr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
C152Y (p.Cys152Tyr) variant details
- p.Cys152Tyr
- rs122460157
- ClinGen CA412351052
- ClinVar RCV000585869
- ClinVar RCV002530871
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 1.00
- MetaLR 0.26
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)