E50* (p.Glu50Ter) variant of GAA (Lysosomal alpha-glucosidase)
E50* (p.Glu50Ter) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- rs1555598609
- ClinGen CA401360341
- ClinVar RCV001207918
- Ensembl rs1555598609
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.07
- MetaLR 0.40
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.27
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)