R34W (p.Arg34Trp) variant of DYSF (Dysferlin)
R34W (p.Arg34Trp) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- rs931174858
- gnomAD 2-71466897-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.31
- CADD 25.30
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available