L294V (p.Leu294Val) variant of BEST1 (Bestrophin-1)
L294V (p.Leu294Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L294V (p.Leu294Val) variant details
- p.Leu294Val
- rs281865251
- ClinGen CA227829
- ClinVar RCV000086178
- ClinVar RCV006270221
- Likely pathogenic
- Retinal disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.75
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Retinal disorder)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). (PMID 14517959)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)