R5L (p.Arg5Leu) variant of IDUA (Alpha-L-iduronidase)
R5L (p.Arg5Leu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 4-987098-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 9.27
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available