W7* (p.Trp7Ter) variant of SGCA (Alpha-sarcoglycan)
W7* (p.Trp7Ter) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W7* (p.Trp7Ter) variant details
- p.Trp7Ter
- rs2509113935
- ClinGen CA400210641
- ClinVar RCV003472672
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available