A17S (p.Ala17Ser) variant of GAA (Lysosomal alpha-glucosidase)
A17S (p.Ala17Ser) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs751425831
- ClinGen CA401360048
- ClinVar RCV002043328
- ExAC rs751425831
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.17
- MetaLR 0.39
- MetaSVM -0.64
- CADD 0.13
- PolyPhen-2 0.10
- SIFT 0.23
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)