S25A (p.Ser25Ala) variant of DYSF (Dysferlin)
S25A (p.Ser25Ala) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S25A (p.Ser25Ala) variant details
- p.Ser25Ala
- gnomAD 2-71454071-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available