T27T (p.Thr27Thr) variant of SGCA (Alpha-sarcoglycan)
T27T (p.Thr27Thr) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T27T (p.Thr27Thr) variant details
- p.Thr27Thr
- rs2144493184
- gnomAD 17-50167411-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.84
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available