H53Q (p.His53Gln) variant of GAA (Lysosomal alpha-glucosidase)
H53Q (p.His53Gln) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- rs2143825464
- ClinGen CA401360364
- ClinVar RCV002756165
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.19
- MetaLR 0.42
- MetaSVM -0.61
- CADD 3.97
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)