R7C (p.Arg7Cys) variant of IDUA (Alpha-L-iduronidase)
R7C (p.Arg7Cys) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- ExAC rs758122214
- gnomAD rs758122214
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 13.80
- PolyPhen-2 0.13
- SIFT 0.03
- Population evidence available
- Structural context available