A7V (p.Ala7Val) variant of OPA1 (O60313)
A7V (p.Ala7Val) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 3-193593397-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available