L4R (p.Leu4Arg) variant of IDUA (Alpha-L-iduronidase)
L4R (p.Leu4Arg) in IDUA (Alpha-L-iduronidase) is a protein-truncating 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.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- rs2153015137
- gnomAD 4-987094-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.11
- Population evidence available
- Structural context available
- Literature evidence available