A28D (p.Ala28Asp) variant of IDUA (Alpha-L-iduronidase)
A28D (p.Ala28Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 4-987167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available