R11Q (p.Arg11Gln) variant of GAA (Lysosomal alpha-glucosidase)
R11Q (p.Arg11Gln) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs138812846
- ClinGen CA8814760
- ClinVar RCV000250396
- ClinVar RCV000525907
- Conflicting interpretations
- not provided; Glycogen storage disease, type II; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.25
- MetaLR 0.38
- MetaSVM -0.73
- CADD 5.07
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.091)
- 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)