H253Y (p.His253Tyr) variant of CACNA1A (O00555)
H253Y (p.His253Tyr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
H253Y (p.His253Tyr) variant details
- p.His253Tyr
- rs121908228
- ClinGen CA266080
- cosmic curated COSV64211
- ClinVar RCV000059312
- Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.63
- ClinVar: Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in EA2)
- UniProt: Pathogenic (in EA2)
- Structural context available
- Cited in: Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. (PMID 12420090)
- Cited in: A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. (PMID 10408533)