R672G (p.Arg672Gly) variant of GAA (Lysosomal alpha-glucosidase)
R672G (p.Arg672Gly) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R672G (p.Arg672Gly) variant details
- p.Arg672Gly
- rs757111744
- ClinGen CA401370073
- ClinVar RCV003504345
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.83
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Likely pathogenic (in LOPD)
- UniProt: Likely pathogenic (in LOPD)
- Most common in the East Asian population (allele frequency 2.5e-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)