S423R (p.Ser423Arg) variant of IDUA (Alpha-L-iduronidase)
S423R (p.Ser423Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S423R (p.Ser423Arg) variant details
- p.Ser423Arg
- rs931627770
- ClinGen CA91169964
- ClinVar RCV001062380
- ClinVar RCV001784619
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.71
- CADD 22.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hu)
- EBI: Pathogenic (in MPS1S and MPS1H/S)
- UniProt: Pathogenic (in MPS1S and MPS1H/S)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I… (PMID 15300847)
- Cited in: IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and… (PMID 21394825)