P25Q (p.Pro25Gln) variant of IDUA (Alpha-L-iduronidase)
P25Q (p.Pro25Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 4-987158-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available