R2C (p.Arg2Cys) variant of IDUA (Alpha-L-iduronidase)
R2C (p.Arg2Cys) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- gnomAD 4-987088-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available