R5C (p.Arg5Cys) variant of OPA1 (O60313)
R5C (p.Arg5Cys) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- gnomAD rs1430877916
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.38
- CADD 24.70
- PolyPhen-2 0.08
- SIFT 0.05
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available