T52P (p.Thr52Pro) variant of GAA (Lysosomal alpha-glucosidase)
T52P (p.Thr52Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. The record also includes structural context.
T52P (p.Thr52Pro) variant details
- p.Thr52Pro
- Ensembl rs2143825352
- Missense
- Structural context available