R3G (p.Arg3Gly) variant of DYSF (Dysferlin)
R3G (p.Arg3Gly) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs2081568765
- gnomAD 2-71466864-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available