L18M (p.Leu18Met) variant of IDUA (Alpha-L-iduronidase)
L18M (p.Leu18Met) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 4-987136-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 12.30
- PolyPhen-2 0.20
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available