A8D (p.Ala8Asp) variant of OPA1 (O60313)
A8D (p.Ala8Asp) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 3-193593400-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.56
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available