R5P (p.Arg5Pro) variant of OPA1 (O60313)
R5P (p.Arg5Pro) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- gnomAD 3-193593391-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available