R7A (p.Arg7Ala) variant of IDUA (Alpha-L-iduronidase)
R7A (p.Arg7Ala) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R7A (p.Arg7Ala) variant details
- p.Arg7Ala
- gnomAD 4-987098-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0896
- CADD 1.27
- Population evidence available
- Structural context available
- Literature evidence available