A10G (p.Ala10Gly) variant of OPA1 (O60313)
A10G (p.Ala10Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A10G (p.Ala10Gly) variant details
- p.Ala10Gly
- gnomAD 3-193593406-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.31
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available