R468W (p.Arg468Trp) variant of IDS (Iduronate 2-sulfatase)
R468W (p.Arg468Trp) 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 not provided; Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R468W (p.Arg468Trp) variant details
- p.Arg468Trp
- rs199422231
- ClinGen CA340991
- ClinVar RCV000011243
- ClinVar RCV000180471
- Pathogenic/Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II; Mucopolysaccharidos)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel… (PMID 10447264)
- Cited in: Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. (PMID 11683780)