L13I (p.Leu13Ile) variant of IDUA (Alpha-L-iduronidase)
L13I (p.Leu13Ile) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- gnomAD rs1395681112
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 3.68
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available