D46E (p.Asp46Glu) variant of IDS (Iduronate 2-sulfatase)
D46E (p.Asp46Glu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs2520901887
- ClinGen CA414527767
- ClinVar RCV003447459
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)