L28T (p.Leu28Thr) variant of SGCA (Alpha-sarcoglycan)
L28T (p.Leu28Thr) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L28T (p.Leu28Thr) variant details
- p.Leu28Thr
- rs1009354113
- gnomAD 17-50167411-GCTAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available