A28V (p.Ala28Val) variant of IDUA (Alpha-L-iduronidase)
A28V (p.Ala28Val) 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.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD 4-987167-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 14.10
- PolyPhen-2 0.10
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available