P22L (p.Pro22Leu) variant of IDUA (Alpha-L-iduronidase)
P22L (p.Pro22Leu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs745879759
- ClinGen CA355945382
- ClinVar RCV000815368
- ClinVar RCV005582446
- Uncertain significance
- Mucopolysaccharidosis type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0729
- CADD 1.75
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- 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)