W75C (p.Trp75Cys) variant of SGCA (Alpha-sarcoglycan)
W75C (p.Trp75Cys) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W75C (p.Trp75Cys) variant details
- p.Trp75Cys
- rs2509118810
- ClinGen CA2580094135
- ClinVar RCV002880920
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available