R55del (p.Arg55del) variant of IRAK4 (Q9NWZ3)
R55del (p.Arg55del) in IRAK4 (Q9NWZ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R55del (p.Arg55del) variant details
- gnomAD 12-43771217-AAGG-
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 35.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available