W7F (p.Trp7Phe) variant of SGCA (Alpha-sarcoglycan)
W7F (p.Trp7Phe) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
W7F (p.Trp7Phe) variant details
- p.Trp7Phe
- gnomAD 17-50166055-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.85
- Population evidence available
- Structural context available
- Literature evidence available