P7T (p.Pro7Thr) variant of GAA (Lysosomal alpha-glucosidase)
P7T (p.Pro7Thr) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The record also includes structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- TOPMed rs1457377630
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- UniProt: Uncertain significance
- Structural context available