A26D (p.Ala26Asp) variant of IDUA (Alpha-L-iduronidase)
A26D (p.Ala26Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- gnomAD 4-987161-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 15.80
- PolyPhen-2 0.51
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available