V713M (p.Val713Met) variant of CACNA1A (O00555)
V713M (p.Val713Met) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
V713M (p.Val713Met) variant details
- p.Val713Met
- rs2144979269
- ClinGen CA404344172
- ClinVar RCV002227406
- ClinVar RCV003089220
- Pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.03
- SIFT 0.17
- MutPred 0.47
- ClinVar: Pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- 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)