T44S (p.Thr44Ser) variant of SGCA (Alpha-sarcoglycan)
T44S (p.Thr44Ser) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- gnomAD 17-50167460-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.31
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available