L4P (p.Leu4Pro) variant of IDUA (Alpha-L-iduronidase)
L4P (p.Leu4Pro) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs180984980
- ClinGen CA2801097
- ClinVar RCV000631451
- ClinVar RCV002528855
- Conflicting interpretations
- Inborn genetic diseases; not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0794
- CADD 3.79
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Mucopolysaccharidosis typ)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.04)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)