P22T (p.Pro22Thr) variant of IDUA (Alpha-L-iduronidase)
P22T (p.Pro22Thr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- gnomAD 4-987148-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 1.88
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available