A24S (p.Ala24Ser) variant of IDUA (Alpha-L-iduronidase)
A24S (p.Ala24Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 4-987154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available