T23I (p.Thr23Ile) variant of GAA (Lysosomal alpha-glucosidase)
T23I (p.Thr23Ile) 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 0.41 / 1. The record also includes published literature and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- rs2039027538
- ClinGen CA401360134
- cosmic curated COSV10739
- ClinVar RCV001064957
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.12
- MetaLR 0.39
- MetaSVM -0.66
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.45
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)