L17P (p.Leu17Pro) variant of IDUA (Alpha-L-iduronidase)
L17P (p.Leu17Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- gnomAD 4-987134-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available