R383H (p.Arg383His) variant of IDUA (Alpha-L-iduronidase)
R383H (p.Arg383His) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R383H (p.Arg383His) variant details
- p.Arg383His
- rs754949360
- ClinGen CA2802205
- ClinVar RCV000674420
- ClinVar RCV001233076
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (PMID 12559846)
- Cited in: Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. (PMID 7550242)