H13D (p.His13Asp) variant of DYSF (Dysferlin)
H13D (p.His13Asp) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H13D (p.His13Asp) variant details
- p.His13Asp
- gnomAD 2-71454035-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available