G638E (p.Gly638Glu) variant of GAA (Lysosomal alpha-glucosidase)
G638E (p.Gly638Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type II; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G638E (p.Gly638Glu) variant details
- p.Gly638Glu
- gnomAD rs1294428728
- Conflicting interpretations
- Glycogen storage disease, type II; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.99
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II; not provided)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available