I468L (p.Ile468Leu) variant of GAA (Lysosomal alpha-glucosidase)
I468L (p.Ile468Leu) 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 0.81 / 1. The record also includes published literature and structural context.
I468L (p.Ile468Leu) variant details
- p.Ile468Leu
- rs886043148
- ClinGen CA401366531
- ClinVar RCV001864080
- TOPMed rs886043148
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.70
- MetaLR 0.85
- MetaSVM 0.75
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)