R600C (p.Arg600Cys) variant of GAA (Lysosomal alpha-glucosidase)
R600C (p.Arg600Cys) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R600C (p.Arg600Cys) variant details
- p.Arg600Cys
- rs764670084
- ClinGen CA8815481
- ClinVar RCV000794042
- ClinVar RCV001784410
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- AlphaMissense 0.83
- MetaLR 0.97
- MetaSVM 1.06
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: New GAA mutations in Japanese patients with GSDII (Pompe disease). (PMID 14643388)
- Cited in: Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation… (PMID 14695532)