G19G (p.Gly19Gly) variant of SGCA (Alpha-sarcoglycan)
G19G (p.Gly19Gly) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G19G (p.Gly19Gly) variant details
- p.Gly19Gly
- rs2144493078
- gnomAD 17-50167387-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 5.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available