L13P (p.Leu13Pro) variant of IDUA (Alpha-L-iduronidase)
L13P (p.Leu13Pro) 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 4-987122-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available