P22A (p.Pro22Ala) variant of IDUA (Alpha-L-iduronidase)
P22A (p.Pro22Ala) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- rs1001972534
- ClinGen CA91144678
- ClinVar RCV001296491
- ClinVar RCV002357082
- Uncertain significance
- Mucopolysaccharidosis type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 0.65
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- 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)