A20E (p.Ala20Glu) variant of IDUA (Alpha-L-iduronidase)
A20E (p.Ala20Glu) 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.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD 4-987143-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 6.00
- PolyPhen-2 0.10
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available