L4H (p.Leu4His) variant of IDUA (Alpha-L-iduronidase)
L4H (p.Leu4His) in IDUA (Alpha-L-iduronidase) is a protein-truncating 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.
L4H (p.Leu4His) variant details
- p.Leu4His
- gnomAD 4-987094-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available