A8R (p.Ala8Arg) variant of IDUA (Alpha-L-iduronidase)
A8R (p.Ala8Arg) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A8R (p.Ala8Arg) variant details
- p.Ala8Arg
- gnomAD 4-987098-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available