E50K (p.Glu50Lys) variant of GAA (Lysosomal alpha-glucosidase)
E50K (p.Glu50Lys) 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 0.41 / 1. The record also includes published literature and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs1555598609
- ClinGen CA401360339
- ClinVar RCV000548222
- Ensembl rs1555598609
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- 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
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
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