H568Q (p.His568Gln) variant of GAA (Lysosomal alpha-glucosidase)
H568Q (p.His568Gln) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H568Q (p.His568Gln) variant details
- p.His568Gln
- rs776882059
- ClinGen CA401369029
- ClinVar RCV001248864
- ExAC rs776882059
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.76
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Likely benign (in IOPD)
- UniProt: Likely benign (in IOPD)
- 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)