Q50* (p.Gln50Ter) variant of IRAK4 (Q9NWZ3)
Q50* (p.Gln50Ter) in IRAK4 (Q9NWZ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q50* (p.Gln50Ter) variant details
- p.Gln50Ter
- TOPMed rs966984847
- gnomAD rs966984847
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 37.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available