C422Y (p.Cys422Tyr) variant of IDS (Iduronate 2-sulfatase)
C422Y (p.Cys422Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C422Y (p.Cys422Tyr) variant details
- p.Cys422Tyr
- rs886044835
- ClinGen CA10604925
- ClinVar RCV000374453
- ClinVar RCV000811810
- Pathogenic/Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)