C11R (p.Cys11Arg) variant of OPA1 (O60313)
C11R (p.Cys11Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- ExAC rs763176048
- gnomAD rs763176048
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.66
- CADD 28.20
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available