G607D (p.Gly607Asp) variant of GAA (Lysosomal alpha-glucosidase)
G607D (p.Gly607Asp) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G607D (p.Gly607Asp) variant details
- p.Gly607Asp
- rs1393386120
- ClinGen CA401369511
- ClinVar RCV001199946
- ClinVar RCV001780105
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation… (PMID 14695532)
- Cited in: Pompe Disease. (PMID 20301438)