p.Leu13 Ala15del variant of IDUA (Alpha-L-iduronidase)
p.Leu13 Ala15del in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu13 Ala15del variant details
- gnomAD 4-987108-CGCGCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available