A10S (p.Ala10Ser) variant of OPA1 (O60313)
A10S (p.Ala10Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- gnomAD 3-193593405-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.22
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available