E30* (p.Glu30Ter) variant of IRAK4 (Q9NWZ3)
E30* (p.Glu30Ter) in IRAK4 (Q9NWZ3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- rs1443126481
- ClinGen CA384464512
- ClinVar RCV000640676
- TOPMed rs1443126481
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available