L11W (p.Leu11Trp) variant of IDUA (Alpha-L-iduronidase)
L11W (p.Leu11Trp) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L11W (p.Leu11Trp) variant details
- p.Leu11Trp
- gnomAD 4-987113-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available