A7D (p.Ala7Asp) variant of OPA1 (O60313)
A7D (p.Ala7Asp) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 3-193593397-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.58
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available