S16Y (p.Ser16Tyr) variant of IDUA (Alpha-L-iduronidase)
S16Y (p.Ser16Tyr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S16Y (p.Ser16Tyr) variant details
- p.Ser16Tyr
- gnomAD 4-987123-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.82
- Population evidence available
- Structural context available
- Literature evidence available