A486T (p.Ala486Thr) variant of GAA (Lysosomal alpha-glucosidase)
A486T (p.Ala486Thr) 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 0.89 / 1. The record also includes published literature and structural context.
A486T (p.Ala486Thr) variant details
- p.Ala486Thr
- rs1283045273
- ClinGen CA401366833
- ClinVar RCV002032125
- TOPMed rs1283045273
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.89
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.77
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Likely pathogenic (in LOPD)
- UniProt: Likely pathogenic (in LOPD)
- 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)