E27D (p.Glu27Asp) variant of IDUA (Alpha-L-iduronidase)
E27D (p.Glu27Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD rs1340836734
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 18.90
- PolyPhen-2 0.33
- SIFT 0.09
- Population evidence available
- Structural context available