E46D (p.Glu46Asp) variant of IRF4 (Interferon regulatory factor 4)
E46D (p.Glu46Asp) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- gnomAD rs1267078147
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.36
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.30
- MutPred 0.48
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available