Q25* (p.Gln25Ter) variant of SGCA (Alpha-sarcoglycan)
Q25* (p.Gln25Ter) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- gnomAD rs1408325793
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available