G643R (p.Gly643Arg) variant of GAA (Lysosomal alpha-glucosidase)
G643R (p.Gly643Arg) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G643R (p.Gly643Arg) variant details
- p.Gly643Arg
- rs28937909
- ClinGen CA116596
- ClinVar RCV000409137
- ClinVar RCV000788193
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.98
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the Non-Finnish European population (allele frequency 3.4e-05)
- Structural context available
- Cited in: Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. (PMID 11071489)
- Cited in: Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID 16917947)