H342Y (p.His342Tyr) variant of IDS (Iduronate 2-sulfatase)
H342Y (p.His342Tyr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
H342Y (p.His342Tyr) variant details
- p.His342Tyr
- rs2089343220
- ClinGen CA414519008
- NCI-TCGA Cosmic COSV1005
- ClinVar RCV001216955
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.52
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online. (PMID 10220152)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)