P496R (p.Pro496Arg) variant of IDUA (Alpha-L-iduronidase)
P496R (p.Pro496Arg) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P496R (p.Pro496Arg) variant details
- p.Pro496Arg
- rs772416503
- ClinGen CA2802275
- ClinVar RCV000592777
- ClinVar RCV000723457
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.72
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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. (PMID 20301341)