E57D (p.Glu57Asp) variant of IRAK4 (Q9NWZ3)
E57D (p.Glu57Asp) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- gnomAD 12-43771229-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.94
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available