R3R (p.Arg3Arg) variant of DYSF (Dysferlin)
R3R (p.Arg3Arg) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- rs2152620707
- gnomAD 2-71454007-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available