P3L (p.Pro3Leu) variant of IDUA (Alpha-L-iduronidase)
P3L (p.Pro3Leu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- gnomAD 4-987092-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available