L11P (p.Leu11Pro) variant of IDUA (Alpha-L-iduronidase)
L11P (p.Leu11Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 4-987116-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available