E30K (p.Glu30Lys) variant of IRAK4 (Q9NWZ3)
E30K (p.Glu30Lys) in IRAK4 (Q9NWZ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs1245012022
- gnomAD 12-43768198-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 31.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available