R40G (p.Arg40Gly) variant of GAA (Lysosomal alpha-glucosidase)
R40G (p.Arg40Gly) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- rs767409395
- ClinGen CA401360283
- cosmic curated COSV56410
- ClinVar RCV001043854
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.23
- MetaLR 0.39
- MetaSVM -0.65
- CADD 16.20
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)