R6R (p.Arg6Arg) variant of OPA1 (O60313)
R6R (p.Arg6Arg) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- gnomAD 3-193593393-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available