V235A (p.Val235Ala) variant of BEST1 (Bestrophin-1)
V235A (p.Val235Ala) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant vitreoretinochoroidopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
V235A (p.Val235Ala) variant details
- p.Val235Ala
- rs267606679
- ClinGen CA115734
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57120
- Pathogenic
- Autosomal dominant vitreoretinochoroidopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Pathogenic (Autosomal dominant vitreoretinochoroidopathy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. (PMID 18611979)
- Cited in: Bestrophinopathies. (PMID 20301346)