V215A (p.Val215Ala) variant of CACNA1A (O00555)
V215A (p.Val215Ala) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
V215A (p.Val215Ala) variant details
- p.Val215Ala
- rs1599292631
- ClinGen CA404348674
- ClinVar RCV000990173
- ClinVar RCV006270446
- Pathogenic/Likely pathogenic
- not provided; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (not provided; Episodic ataxia type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)