P21T (p.Pro21Thr) variant of IDUA (Alpha-L-iduronidase)
P21T (p.Pro21Thr) 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 Inborn genetic diseases; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- rs778952883
- ClinGen CA2801106
- ClinVar RCV003095729
- ClinVar RCV005353100
- Uncertain significance
- Inborn genetic diseases; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0599
- CADD 0.18
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases; Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)