S16C (p.Ser16Cys) variant of IDUA (Alpha-L-iduronidase)
S16C (p.Ser16Cys) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- gnomAD 4-987135-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 8.62
- Population evidence available
- Structural context available
- Literature evidence available