R48P (p.Arg48Pro) variant of IDS (Iduronate 2-sulfatase)
R48P (p.Arg48Pro) 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 0.94 / 1. The record also includes published literature and structural context.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- rs1569560528
- ClinGen CA414527737
- ClinVar RCV000780348
- UniProt VAR 007314
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.88
- 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: Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the… (PMID 7581397)
- Cited in: Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter… (PMID 9501270)