P29Q (p.Pro29Gln) variant of IDUA (Alpha-L-iduronidase)
P29Q (p.Pro29Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD 4-987170-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 21.50
- PolyPhen-2 0.50
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available