Y108D (p.Tyr108Asp) variant of IDS (Iduronate 2-sulfatase)
Y108D (p.Tyr108Asp) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
Y108D (p.Tyr108Asp) variant details
- p.Tyr108Asp
- rs2520896190
- ClinGen CA414526359
- ClinVar RCV002289443
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic (in MPS2)
- UniProt: Likely pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)