R5C (p.Arg5Cys) variant of IDUA (Alpha-L-iduronidase)
R5C (p.Arg5Cys) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- gnomAD rs112802149
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 15.10
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available