H13H (p.His13His) variant of DYSF (Dysferlin)
H13H (p.His13His) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H13H (p.His13His) variant details
- p.His13His
- rs1005614411
- gnomAD 2-71454037-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available