R34R (p.Arg34Arg) variant of DYSF (Dysferlin)
R34R (p.Arg34Arg) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R34R (p.Arg34Arg) variant details
- p.Arg34Arg
- gnomAD 2-71466897-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available