W75* (p.Trp75Ter) variant of SGCA (Alpha-sarcoglycan)
W75* (p.Trp75Ter) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W75* (p.Trp75Ter) variant details
- p.Trp75Ter
- gnomAD 17-50167649-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 39.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available