R89W (p.Arg89Trp) variant of IDUA (Alpha-L-iduronidase)
R89W (p.Arg89Trp) 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; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome. 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.
R89W (p.Arg89Trp) variant details
- p.Arg89Trp
- rs754966840
- ClinGen CA2801156
- ClinVar RCV000703774
- ClinVar RCV001784344
- Pathogenic
- Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hu)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and… (PMID 21394825)
- Cited in: Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. (PMID 7550242)