A195V (p.Ala195Val) variant of BEST1 (Bestrophin-1)
A195V (p.Ala195Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BEST1-related dominant retinopathy; Autosomal recessive bestrophinopathy; Autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A195V (p.Ala195Val) variant details
- p.Ala195Val
- rs200277476
- ClinGen CA227785
- cosmic curated COSV57119
- ClinVar RCV000086140
- Pathogenic/Likely pathogenic
- BEST1-related dominant retinopathy; Autosomal recessive bestrophinopathy; Autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BEST1-related dominant retinopathy; Autosomal recessive bestroph)
- EBI: Pathogenic (in ARB and VMD2)
- UniProt: Pathogenic (in ARB and VMD2)
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. (PMID 21330666)