G483R (p.Gly483Arg) variant of GAA (Lysosomal alpha-glucosidase)
G483R (p.Gly483Arg) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G483R (p.Gly483Arg) variant details
- p.Gly483Arg
- rs770590394
- ClinGen CA8815349
- ClinVar RCV000278497
- ClinVar RCV000664619
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.82
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.04
- 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: 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)