R34* (p.Arg34Ter) variant of DYSF (Dysferlin)
R34* (p.Arg34Ter) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- gnomAD 2-71466930-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 43.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available