Q67Q (p.Gln67Gln) variant of SGCA (Alpha-sarcoglycan)
Q67Q (p.Gln67Gln) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q67Q (p.Gln67Gln) variant details
- p.Gln67Gln
- rs756679424
- gnomAD 17-50167625-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 12.00
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available
- Literature evidence available