G638V (p.Gly638Val) variant of GAA (Lysosomal alpha-glucosidase)
G638V (p.Gly638Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G638V (p.Gly638Val) variant details
- p.Gly638Val
- rs1294428728
- ClinGen CA401369874
- ClinVar RCV001193579
- ClinVar RCV001780099
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.99
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. (PMID 19588081)
- Cited in: Pompe Disease. (PMID 20301438)