E27G (p.Glu27Gly) variant of IDUA (Alpha-L-iduronidase)
E27G (p.Glu27Gly) 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.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- Ensembl rs2153015206
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available