E4* (p.Glu4Ter) variant of IRF4 (Interferon regulatory factor 4)
E4* (p.Glu4Ter) in IRF4 (Interferon regulatory factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- gnomAD rs1452883883
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available