p.Ser43dup variant of IRAK4 (Q9NWZ3)
p.Ser43dup in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser43dup variant details
- rs1940377066
- gnomAD 12-43768235-C-CCA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 18.50
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available