E74Q (p.Glu74Gln) variant of IRF8 (Interferon regulatory factor 8)
E74Q (p.Glu74Gln) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E74Q (p.Glu74Gln) variant details
- p.Glu74Gln
- ExAC rs760464695
- gnomAD rs760464695
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.82
- CADD 27.90
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available