R34G (p.Arg34Gly) variant of DYSF (Dysferlin)
R34G (p.Arg34Gly) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- rs931174858
- gnomAD 2-71466897-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available