P55T (p.Pro55Thr) variant of SGCA (Alpha-sarcoglycan)
P55T (p.Pro55Thr) 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.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- rs759624003
- gnomAD 17-50167585-TCC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 22.20
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available