V23M (p.Val23Met) variant of IDUA (Alpha-L-iduronidase)
V23M (p.Val23Met) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- gnomAD 4-987151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 11.10
- PolyPhen-2 0.26
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available