L490P (p.Leu490Pro) variant of IDUA (Alpha-L-iduronidase)
L490P (p.Leu490Pro) 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; not provided; Hurler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L490P (p.Leu490Pro) variant details
- p.Leu490Pro
- rs121965027
- ClinGen CA220503
- ClinVar RCV000012694
- ClinVar RCV000173657
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1; not provided; Hurler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.56
- CADD 18.90
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1; not provided; Hurler syndrome)
- EBI: Pathogenic (in MPS1H/S and MPS1S)
- UniProt: Pathogenic (in MPS1H/S and MPS1S)
- Most common in the South Asian population (allele frequency 0.00021)
- 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: Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). (PMID 7550232)