L29C (p.Leu29Cys) variant of IL4R (P24394)
L29C (p.Leu29Cys) in IL4R (P24394) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L29C (p.Leu29Cys) variant details
- p.Leu29Cys
- gnomAD 16-27342133-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available