L10R (p.Leu10Arg) variant of SGCA (Alpha-sarcoglycan)
L10R (p.Leu10Arg) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- rs2509113948
- ClinGen CA2739268211
- ClinVar RCV003622754
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available