R5S (p.Arg5Ser) variant of OPA1 (O60313)
R5S (p.Arg5Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD rs1430877916
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available