V311G (p.Val311Gly) variant of BEST1 (Bestrophin-1)
V311G (p.Val311Gly) 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 Retinal dystrophy; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V311G (p.Val311Gly) variant details
- p.Val311Gly
- rs1941820458
- ClinGen CA380844093
- ClinVar RCV002468901
- ClinVar RCV004817034
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.83
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)