T44T (p.Thr44Thr) variant of SGCA (Alpha-sarcoglycan)
T44T (p.Thr44Thr) 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.
T44T (p.Thr44Thr) variant details
- p.Thr44Thr
- rs886044035
- gnomAD 17-50167462-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 5.03
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available