F6L (p.Phe6Leu) variant of SGCA (Alpha-sarcoglycan)
F6L (p.Phe6Leu) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
F6L (p.Phe6Leu) variant details
- p.Phe6Leu
- rs1189219411
- gnomAD 17-50166049-GAC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available