R89G (p.Arg89Gly) variant of IDUA (Alpha-L-iduronidase)
R89G (p.Arg89Gly) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R89G (p.Arg89Gly) variant details
- p.Arg89Gly
- rs754966840
- ClinGen CA355946541
- ClinVar RCV003755737
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)