L17I (p.Leu17Ile) variant of IDUA (Alpha-L-iduronidase)
L17I (p.Leu17Ile) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- ExAC rs749763468
- gnomAD rs749763468
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 12.50
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available