H229R (p.His229Arg) variant of IDS (Iduronate 2-sulfatase)
H229R (p.His229Arg) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
H229R (p.His229Arg) variant details
- p.His229Arg
- rs193302905
- ClinGen CA337036439
- ClinVar RCV003509087
- UniProt VAR 026938
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. (PMID 9660053)
- Cited in: Hunter disease in the Spanish population: molecular analysis in 31 families. (PMID 9762601)