G2E (p.Gly2Glu) variant of GAA (Lysosomal alpha-glucosidase)
G2E (p.Gly2Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- gnomAD rs1245992455
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.65
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available