E30del (p.Glu30del) variant of IRAK4 (Q9NWZ3)
E30del (p.Glu30del) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E30del (p.Glu30del) variant details
- gnomAD 12-43768196-CAAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 20.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available