L4C (p.Leu4Cys) variant of IDUA (Alpha-L-iduronidase)
L4C (p.Leu4Cys) 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.
L4C (p.Leu4Cys) variant details
- p.Leu4Cys
- rs1399691428
- gnomAD 4-987090-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available