S16F (p.Ser16Phe) variant of BEST1 (Bestrophin-1)
S16F (p.Ser16Phe) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- rs281865210
- ClinGen CA227783
- ClinVar RCV000086138
- UniProt VAR 010470
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.56
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.37
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. (PMID 11241846)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)