R89Q (p.Arg89Gln) variant of IDUA (Alpha-L-iduronidase)
R89Q (p.Arg89Gln) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- rs121965029
- ClinGen CA256124
- NCI-TCGA Cosmic COSV9992
- ClinVar RCV000012697
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (PMID 12559846)
- Cited in: Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. (PMID 8213840)