R2S (p.Arg2Ser) variant of IDUA (Alpha-L-iduronidase)
R2S (p.Arg2Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- gnomAD rs1407588987
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 9.04
- PolyPhen-2 0.02
- SIFT 0.17
- Population evidence available
- Structural context available