E50G (p.Glu50Gly) variant of GAA (Lysosomal alpha-glucosidase)
E50G (p.Glu50Gly) in GAA (Lysosomal alpha-glucosidase) is a missense change. The record also includes structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- Ensembl rs2143825322
- Missense
- Structural context available