I557S (p.Ile557Ser) variant of GAA (Lysosomal alpha-glucosidase)
I557S (p.Ile557Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
I557S (p.Ile557Ser) variant details
- p.Ile557Ser
- rs1408164312
- ClinGen CA401368920
- ClinVar RCV002260940
- gnomAD rs1408164312
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.68
- MetaLR 0.73
- MetaSVM 0.74
- PolyPhen-2 0.51
- SIFT 0.00
- EVE 0.30
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Likely pathogenic (in IOPD)
- UniProt: Likely pathogenic (in IOPD)
- 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)