R34Q (p.Arg34Gln) variant of DYSF (Dysferlin)
R34Q (p.Arg34Gln) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- gnomAD 2-71466931-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.15
- CADD 26.10
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available