L17H (p.Leu17His) variant of IDUA (Alpha-L-iduronidase)
L17H (p.Leu17His) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L17H (p.Leu17His) variant details
- p.Leu17His
- gnomAD 4-987134-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 23.30
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available