A17T (p.Ala17Thr) variant of GAA (Lysosomal alpha-glucosidase)
A17T (p.Ala17Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs751425831
- ClinGen CA8814772
- ClinVar RCV000531988
- ClinVar RCV003884600
- Uncertain significance
- Glycogen storage disease, type II; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.60
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Glycogen storage disease, type II; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)