A29A (p.Ala29Ala) variant of DYSF (Dysferlin)
A29A (p.Ala29Ala) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A29A (p.Ala29Ala) variant details
- p.Ala29Ala
- gnomAD 2-71454085-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available