E521K (p.Glu521Lys) variant of IDS (Iduronate 2-sulfatase)
E521K (p.Glu521Lys) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E521K (p.Glu521Lys) variant details
- p.Glu521Lys
- rs2124648301
- ClinGen CA414517816
- ClinVar RCV001382697
- UniProt VAR 026962
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Molecular analysis in 23 Hunter disease families. (PMID 9266380)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)