A9S (p.Ala9Ser) variant of IDUA (Alpha-L-iduronidase)
A9S (p.Ala9Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 4-987109-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0714
- CADD 0.06
- PolyPhen-2 0.03
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available