H33R (p.His33Arg) variant of GAA (Lysosomal alpha-glucosidase)
H33R (p.His33Arg) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H33R (p.His33Arg) variant details
- p.His33Arg
- rs773479616
- ClinGen CA8814786
- ClinVar RCV001897622
- ExAC rs773479616
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.24
- MetaLR 0.37
- MetaSVM -0.67
- CADD 1.98
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)