L17F (p.Leu17Phe) variant of IDUA (Alpha-L-iduronidase)
L17F (p.Leu17Phe) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- ExAC rs749763468
- gnomAD rs749763468
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available