L11R (p.Leu11Arg) variant of IDUA (Alpha-L-iduronidase)
L11R (p.Leu11Arg) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- gnomAD 4-987116-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 23.30
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available