R8* (p.Arg8Ter) variant of IRF4 (Interferon regulatory factor 4)
R8* (p.Arg8Ter) in IRF4 (Interferon regulatory factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R8* (p.Arg8Ter) variant details
- p.Arg8Ter
- gnomAD 6-393174-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 38.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available