I485K (p.Ile485Lys) variant of IDS (Iduronate 2-sulfatase)
I485K (p.Ile485Lys) 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 0.96 / 1. The record also includes published literature and structural context.
I485K (p.Ile485Lys) variant details
- p.Ile485Lys
- rs782430567
- ClinGen CA414518055
- ClinVar RCV001568383
- UniProt VAR 007382
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). (PMID 9875019)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)