S25Y (p.Ser25Tyr) variant of DYSF (Dysferlin)
S25Y (p.Ser25Tyr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S25Y (p.Ser25Tyr) variant details
- p.Ser25Tyr
- gnomAD 2-71454072-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available