E45D (p.Glu45Asp) variant of IRF4 (Interferon regulatory factor 4)
E45D (p.Glu45Asp) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- gnomAD 6-393287-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.35
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.58
- MutPred 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available