E57* (p.Glu57Ter) variant of IRAK4 (Q9NWZ3)
E57* (p.Glu57Ter) in IRAK4 (Q9NWZ3) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- rs1321134418
- TOPMed rs1321134418
- gnomAD rs1321134418
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available