Q50S (p.Gln50Ser) variant of IRAK4 (Q9NWZ3)
Q50S (p.Gln50Ser) in IRAK4 (Q9NWZ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q50S (p.Gln50Ser) variant details
- p.Gln50Ser
- rs1315883092
- gnomAD 12-43768257-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 24.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available