P29H (p.Pro29His) variant of IDUA (Alpha-L-iduronidase)
P29H (p.Pro29His) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P29H (p.Pro29His) variant details
- p.Pro29His
- gnomAD 4-987168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.96
- Population evidence available
- Structural context available
- Literature evidence available