A243V (p.Ala243Val) variant of BEST1 (Bestrophin-1)
A243V (p.Ala243Val) 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 Autosomal dominant BEST1-related disorders; Vitelliform macular dystrophy 1; Ret. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A243V (p.Ala243Val) variant details
- p.Ala243Val
- rs28940570
- ClinGen CA227815
- ClinVar RCV000002858
- ClinVar RCV000086167
- Pathogenic/Likely pathogenic
- Autosomal dominant BEST1-related disorders; Vitelliform macular dystrophy 1; Ret
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.94
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant BEST1-related disorders; Vitelliform macular)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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: Clinical and molecular genetic analysis of best vitelliform macular dystrophy. (PMID 19357557)