A10D (p.Ala10Asp) variant of OPA1 (O60313)
A10D (p.Ala10Asp) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- gnomAD 3-193593406-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available