G2R (p.Gly2Arg) variant of GAA (Lysosomal alpha-glucosidase)
G2R (p.Gly2Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- TOPMed rs1567825175
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available