A10V (p.Ala10Val) variant of BEST1 (Bestrophin-1)
A10V (p.Ala10Val) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs281865207
- ClinGen CA227762
- ClinVar RCV000086121
- ClinVar RCV001002886
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.95
- CADD 22.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- 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: The mutation spectrum of the bestrophin protein--functional implications. (PMID 10394929)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)