C24* (p.Cys24Ter) variant of DYSF (Dysferlin)
C24* (p.Cys24Ter) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C24* (p.Cys24Ter) variant details
- p.Cys24Ter
- gnomAD 2-71466851-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available