A24T (p.Ala24Thr) variant of GAA (Lysosomal alpha-glucosidase)
A24T (p.Ala24Thr) 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 not provided; Cardiovascular phenotype; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs139716763
- ClinGen CA8814780
- ClinVar RCV000266365
- ClinVar RCV000631058
- Uncertain significance
- not provided; Cardiovascular phenotype; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.27
- MetaLR 0.38
- MetaSVM -0.65
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Glycogen storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)