P6A (p.Pro6Ala) variant of GAA (Lysosomal alpha-glucosidase)
P6A (p.Pro6Ala) 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.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- TOPMed rs1424116613
- gnomAD rs1424116613
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available