R88C (p.Arg88Cys) variant of IDS (Iduronate 2-sulfatase)
R88C (p.Arg88Cys) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- rs398123249
- ClinGen CA220494
- ClinVar RCV000177014
- ClinVar RCV000790676
- Pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. (PMID 11683780)
- Cited in: Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. (PMID 8940265)