A17P (p.Ala17Pro) variant of GAA (Lysosomal alpha-glucosidase)
A17P (p.Ala17Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- ExAC rs751425831
- TOPMed rs751425831
- gnomAD rs751425831
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available