P22Q (p.Pro22Gln) variant of IDUA (Alpha-L-iduronidase)
P22Q (p.Pro22Gln) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P22Q (p.Pro22Gln) variant details
- p.Pro22Gln
- ExAC rs745879759
- TOPMed rs745879759
- gnomAD rs745879759
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0712
- CADD 0.43
- PolyPhen-2 0.02
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available