E30E (p.Glu30Glu) variant of IRAK4 (Q9NWZ3)
E30E (p.Glu30Glu) in IRAK4 (Q9NWZ3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- gnomAD 12-43768201-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 12.70
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available