A26E (p.Ala26Glu) variant of DYSF (Dysferlin)
A26E (p.Ala26Glu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD 2-71454075-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available