R5H (p.Arg5His) variant of IDUA (Alpha-L-iduronidase)
R5H (p.Arg5His) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 4-987098-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 9.76
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available