C84W (p.Cys84Trp) variant of IDS (Iduronate 2-sulfatase)
C84W (p.Cys84Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C84W (p.Cys84Trp) variant details
- p.Cys84Trp
- rs1557340286
- ClinGen CA414526933
- ClinVar RCV001291744
- TOPMed rs1557340286
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)