L11Q (p.Leu11Gln) variant of IDUA (Alpha-L-iduronidase)
L11Q (p.Leu11Gln) 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.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- gnomAD 4-987116-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 23.20
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available