R5G (p.Arg5Gly) variant of IDS (Iduronate 2-sulfatase)
R5G (p.Arg5Gly) 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 structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- ESP rs141900718
- ExAC rs141900718
- TOPMed rs141900718
- gnomAD rs141900718
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II; Inborn genetic diseases
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Structural context available