L4Q (p.Leu4Gln) variant of IDUA (Alpha-L-iduronidase)
L4Q (p.Leu4Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L4Q (p.Leu4Gln) variant details
- p.Leu4Gln
- gnomAD 4-987095-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0703
- CADD 2.57
- PolyPhen-2 0.02
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available