G377S (p.Gly377Ser) variant of GAA (Lysosomal alpha-glucosidase)
G377S (p.Gly377Ser) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G377S (p.Gly377Ser) variant details
- p.Gly377Ser
- rs752002666
- ClinGen CA401365012
- ClinVar RCV000666389
- ClinVar RCV004702282
- Conflicting interpretations
- Glycogen storage disease, type II; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.92
- AlphaMissense 0.86
- MetaLR 0.94
- MetaSVM 1.11
- CADD 30.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II; not specified)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Population evidence available
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)