V23L (p.Val23Leu) variant of IDUA (Alpha-L-iduronidase)
V23L (p.Val23Leu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- TOPMed rs1713789241
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 7.37
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available