R3R (p.Arg3Arg) variant of OPA1 (O60313)
R3R (p.Arg3Arg) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- gnomAD 3-193593384-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 15.20
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available
- Literature evidence available