F80L (p.Phe80Leu) variant of BEST1 (Bestrophin-1)
F80L (p.Phe80Leu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BEST1-related disorder; Autosomal recessive bestrophinopathy; Autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F80L (p.Phe80Leu) variant details
- p.Phe80Leu
- rs281865221
- ClinGen CA380833835
- ClinVar RCV001959058
- UniProt VAR 017373
- Pathogenic
- BEST1-related disorder; Autosomal recessive bestrophinopathy; Autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)