G28E (p.Gly28Glu) variant of GAA (Lysosomal alpha-glucosidase)
G28E (p.Gly28Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- cosmic curated COSV10812
- TOPMed rs886042598
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.29
- AlphaMissense 0.51
- MetaLR 0.43
- MetaSVM -0.48
- CADD 14.80
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available