A8G (p.Ala8Gly) variant of IDUA (Alpha-L-iduronidase)
A8G (p.Ala8Gly) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- gnomAD 4-987099-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 2.97
- Population evidence available
- Structural context available
- Literature evidence available