A10S (p.Ala10Ser) variant of BEST1 (Bestrophin-1)
A10S (p.Ala10Ser) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- gnomAD 11-61951834-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.72
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available