C272Y (p.Cys272Tyr) variant of CACNA1A (O00555)
C272Y (p.Cys272Tyr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CACNA1A-related disorder; Hereditary episodic ataxia; Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C272Y (p.Cys272Tyr) variant details
- p.Cys272Tyr
- rs771682941
- ClinGen CA9240955
- ClinVar RCV001942154
- ClinVar RCV002291304
- Pathogenic/Likely pathogenic
- CACNA1A-related disorder; Hereditary episodic ataxia; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.50
- ClinVar: Pathogenic/Likely pathogenic (CACNA1A-related disorder; Hereditary episodic ataxia; Episodic a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)