A8D (p.Ala8Asp) variant of IDUA (Alpha-L-iduronidase)
A8D (p.Ala8Asp) 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.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- rs750154430
- gnomAD 4-987099-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.78
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available