C44* (p.Cys44Ter) variant of IL4R (P24394)
C44* (p.Cys44Ter) in IL4R (P24394) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C44* (p.Cys44Ter) variant details
- p.Cys44Ter
- TOPMed rs930075388
- gnomAD rs930075388
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available