R56R (p.Arg56Arg) variant of OPA1 (O60313)
R56R (p.Arg56Arg) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- gnomAD 3-193614858-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 12.10
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available