R5G (p.Arg5Gly) variant of OPA1 (O60313)
R5G (p.Arg5Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD 3-193593390-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.26
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available