R3L (p.Arg3Leu) variant of OPA1 (O60313)
R3L (p.Arg3Leu) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- gnomAD 3-193593385-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.52
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available