H13R (p.His13Arg) variant of DYSF (Dysferlin)
H13R (p.His13Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- gnomAD 2-71454036-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available