E521K (p.Glu521Lys) variant of GAA (Lysosomal alpha-glucosidase)
E521K (p.Glu521Lys) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E521K (p.Glu521Lys) variant details
- p.Glu521Lys
- rs121907937
- ClinGen CA116593
- NCI-TCGA Cosmic COSV5640
- cosmic curated COSV56408
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.93
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. (PMID 1898413)
- Cited in: Pompe Disease. (PMID 20301438)