L14M (p.Leu14Met) variant of IDUA (Alpha-L-iduronidase)
L14M (p.Leu14Met) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD rs1342075215
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 10.20
- PolyPhen-2 0.11
- SIFT 0.07
- Population evidence available
- Structural context available