Q80R (p.Gln80Arg) variant of IDS (Iduronate 2-sulfatase)
Q80R (p.Gln80Arg) 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; Inborn genetic diseases. The record also includes published literature and structural context.
Q80R (p.Gln80Arg) variant details
- p.Gln80Arg
- rs2520900502
- ClinGen CA414527123
- ClinVar RCV002430660
- ClinVar RCV003098851
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II; Inborn genetic diseases
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)