P533R (p.Pro533Arg) variant of IDUA (Alpha-L-iduronidase)
P533R (p.Pro533Arg) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P533R (p.Pro533Arg) variant details
- p.Pro533Arg
- rs121965021
- ClinGen CA256112
- ClinVar RCV000012685
- ClinVar RCV000208595
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.78
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H and MPS1H/S)
- UniProt: Pathogenic (in MPS1H and MPS1H/S)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects. (PMID 10738517)
- Cited in: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (PMID 12559846)