H612N (p.His612Asn) variant of GAA (Lysosomal alpha-glucosidase)
H612N (p.His612Asn) 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 0.86 / 1. The record also includes published literature and structural context.
H612N (p.His612Asn) variant details
- p.His612Asn
- rs2039264895
- ClinGen CA401369557
- ClinVar RCV002251274
- TOPMed rs2039264895
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.73
- MetaLR 0.92
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance (in IOPD)
- UniProt: Uncertain significance (in IOPD)
- 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)