A28S (p.Ala28Ser) variant of IDUA (Alpha-L-iduronidase)
A28S (p.Ala28Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD rs1401773571
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available