R11G (p.Arg11Gly) variant of GAA (Lysosomal alpha-glucosidase)
R11G (p.Arg11Gly) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- rs772394815
- ClinGen CA401359956
- ClinVar RCV000527097
- ExAC rs772394815
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.43
- MetaLR 0.38
- MetaSVM -0.72
- CADD 6.31
- SIFT 0.25
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)