V317M (p.Val317Met) variant of BEST1 (Bestrophin-1)
V317M (p.Val317Met) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V317M (p.Val317Met) variant details
- p.Val317Met
- rs121918287
- UniProt VAR 043494
- Ensembl rs121918287
- Pathogenic
- Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.96
- AlphaMissense 0.08
- MetaLR 0.98
- MetaSVM 1.06
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive bestrophinopathy)
- EBI: Pathogenic (in ARB)
- UniProt: Pathogenic (in ARB)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Biallelic mutation of BEST1 causes a distinct retinopathy in humans. (PMID 18179881)
- Cited in: Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. (PMID 21330666)