V1392M (p.Val1392Met) variant of CACNA1A (O00555)
V1392M (p.Val1392Met) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V1392M (p.Val1392Met) variant details
- p.Val1392Met
- rs794727411
- ClinGen CA242642
- ClinVar RCV000176622
- ClinVar RCV000415108
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine,)
- 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)