E46del (p.Glu46del) variant of IRF4 (Interferon regulatory factor 4)
E46del (p.Glu46del) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E46del (p.Glu46del) variant details
- rs753781892
- gnomAD 6-393284-CGAG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 22.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available