A9V (p.Ala9Val) variant of IDUA (Alpha-L-iduronidase)
A9V (p.Ala9Val) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 4-987110-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 12.40
- PolyPhen-2 0.02
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available