L13F (p.Leu13Phe) variant of IDUA (Alpha-L-iduronidase)
L13F (p.Leu13Phe) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- gnomAD rs1395681112
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 4.55
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available