F305S (p.Phe305Ser) variant of BEST1 (Bestrophin-1)
F305S (p.Phe305Ser) 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; not provided; Retinal disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F305S (p.Phe305Ser) variant details
- p.Phe305Ser
- rs281865265
- UniProt VAR 000865
- Ensembl rs281865265
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinal disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinal disorder)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular… (PMID 9700209)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)