R468Q (p.Arg468Gln) variant of IDS (Iduronate 2-sulfatase)
R468Q (p.Arg468Gln) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R468Q (p.Arg468Gln) variant details
- p.Arg468Gln
- rs113993946
- ClinGen CA340992
- ClinVar RCV000011244
- ClinVar RCV000180473
- Pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Expression of five iduronate-2-sulfatase site-directed mutations. (PMID 10838181)
- Cited in: Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. (PMID 11683780)