E27A (p.Glu27Ala) variant of IDUA (Alpha-L-iduronidase)
E27A (p.Glu27Ala) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- gnomAD 4-987164-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available