A23T (p.Ala23Thr) variant of SGCA (Alpha-sarcoglycan)
A23T (p.Ala23Thr) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 17-50167397-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.30
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available