D303V (p.Asp303Val) variant of BEST1 (Bestrophin-1)
D303V (p.Asp303Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant vitreoretinochoroidopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D303V (p.Asp303Val) variant details
- p.Asp303Val
- rs1591301548
- ClinGen CA380843911
- ClinVar RCV001002896
- ClinVar RCV005414546
- Pathogenic
- Autosomal dominant vitreoretinochoroidopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Autosomal dominant vitreoretinochoroidopathy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)