R7L (p.Arg7Leu) variant of IDUA (Alpha-L-iduronidase)
R7L (p.Arg7Leu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD 4-987104-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 10.90
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available