V1808I (p.Val1808Ile) variant of CACNA1A (O00555)
V1808I (p.Val1808Ile) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V1808I (p.Val1808Ile) variant details
- p.Val1808Ile
- rs1296629000
- ClinGen CA404333756
- cosmic curated COSV64194
- ClinVar RCV001916764
- Pathogenic/Likely pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.81
- CADD 24.30
- PolyPhen-2 0.11
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)