P29T (p.Pro29Thr) variant of IDUA (Alpha-L-iduronidase)
P29T (p.Pro29Thr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- gnomAD 4-987169-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 14.30
- PolyPhen-2 0.10
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available