G607S (p.Gly607Ser) variant of GAA (Lysosomal alpha-glucosidase)
G607S (p.Gly607Ser) 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 not specified; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G607S (p.Gly607Ser) variant details
- p.Gly607Ser
- rs940955642
- ClinGen CA294896390
- ClinVar RCV000539677
- ClinVar RCV004701607
- Uncertain significance
- not specified; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.88
- AlphaMissense 0.37
- MetaLR 0.89
- MetaSVM 0.98
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified; Glycogen storage disease, type II)
- EBI: Likely pathogenic (in IOPD)
- UniProt: Likely pathogenic (in IOPD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)