R819Q (p.Arg819Gln) variant of GAA (Lysosomal alpha-glucosidase)
R819Q (p.Arg819Gln) 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 not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R819Q (p.Arg819Gln) variant details
- p.Arg819Gln
- rs374687883
- ClinGen CA8815747
- ClinVar RCV000545406
- ClinVar RCV004791521
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.89
- MetaLR 0.83
- MetaSVM 0.86
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Likely pathogenic (in IOPD)
- UniProt: Likely pathogenic (in IOPD)
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)