A24D (p.Ala24Asp) variant of IDUA (Alpha-L-iduronidase)
A24D (p.Ala24Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD 4-987155-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 10.30
- PolyPhen-2 0.12
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available