L14P (p.Leu14Pro) variant of IDUA (Alpha-L-iduronidase)
L14P (p.Leu14Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 4-987125-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available