Q500R (p.Gln500Arg) variant of IDUA (Alpha-L-iduronidase)
Q500R (p.Gln500Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q500R (p.Gln500Arg) variant details
- p.Gln500Arg
- rs1715216061
- ClinGen CA355964729
- ClinVar RCV001765415
- ClinVar RCV001882889
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.60
- CADD 24.70
- PolyPhen-2 0.65
- SIFT 0.08
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)