A12R (p.Ala12Arg) variant of IDUA (Alpha-L-iduronidase)
A12R (p.Ala12Arg) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A12R (p.Ala12Arg) variant details
- p.Ala12Arg
- gnomAD 4-987116-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 1.70
- Population evidence available
- Structural context available
- Literature evidence available