R3G (p.Arg3Gly) variant of OPA1 (O60313)
R3G (p.Arg3Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD 3-193593384-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.57
- CADD 28.20
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available