R34H (p.Arg34His) variant of DYSF (Dysferlin)
R34H (p.Arg34His) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs2081572094
- gnomAD 2-71466901-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.19
- CADD 25.00
- PolyPhen-2 0.68
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available