R363C (p.Arg363Cys) variant of IDUA (Alpha-L-iduronidase)
R363C (p.Arg363Cys) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R363C (p.Arg363Cys) variant details
- p.Arg363Cys
- rs750496798
- ClinGen CA2802184
- ClinVar RCV000673313
- ClinVar RCV001784281
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.84
- CADD 26.80
- PolyPhen-2 1.00
- 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 9e-06)
- Structural context available
- Cited in: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I… (PMID 15300847)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)