R5G (p.Arg5Gly) variant of IDUA (Alpha-L-iduronidase)
R5G (p.Arg5Gly) 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 and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD rs112802149
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available