R5H (p.Arg5His) variant of OPA1 (O60313)
R5H (p.Arg5His) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 3-193593391-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.16
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available