E46K (p.Glu46Lys) variant of IRF4 (Interferon regulatory factor 4)
E46K (p.Glu46Lys) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- ExAC rs780297970
- gnomAD rs780297970
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.71
- CADD 28.50
- PolyPhen-2 0.95
- SIFT 0.07
- MutPred 0.65
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available