E43K (p.Glu43Lys) variant of IRF4 (Interferon regulatory factor 4)
E43K (p.Glu43Lys) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- gnomAD 6-393279-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.58
- Population evidence available
- Structural context available
- Literature evidence available