L18P (p.Leu18Pro) variant of IDUA (Alpha-L-iduronidase)
L18P (p.Leu18Pro) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs794726878
- ClinGen CA238566
- ClinVar RCV000592086
- ClinVar RCV000724295
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. (PMID 25256405)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)