E4K (p.Glu4Lys) variant of IRF4 (Interferon regulatory factor 4)
E4K (p.Glu4Lys) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD 6-393162-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.54
- CADD 26.10
- PolyPhen-2 0.35
- SIFT 0.01
- MutPred 0.36
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available