E30Q (p.Glu30Gln) variant of IRAK4 (Q9NWZ3)
E30Q (p.Glu30Gln) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- TOPMed rs1443126481
- gnomAD rs1443126481
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 24.20
- PolyPhen-2 0.86
- SIFT 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available