E27* (p.Glu27Ter) variant of IDUA (Alpha-L-iduronidase)
E27* (p.Glu27Ter) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD rs1297418198
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 36.00
- Population evidence available
- Structural context available