L14Q (p.Leu14Gln) variant of IDUA (Alpha-L-iduronidase)
L14Q (p.Leu14Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 4-987125-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 16.40
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available