A8E (p.Ala8Glu) variant of IDUA (Alpha-L-iduronidase)
A8E (p.Ala8Glu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- rs1240723907
- gnomAD 4-987105-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 8.75
- Population evidence available
- Structural context available
- Literature evidence available