R6L (p.Arg6Leu) variant of OPA1 (O60313)
R6L (p.Arg6Leu) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- cosmic curated COSV62481
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.54
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available