A10V (p.Ala10Val) variant of OPA1 (O60313)
A10V (p.Ala10Val) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 3-193593406-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.35
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available