E43D (p.Glu43Asp) variant of IRF4 (Interferon regulatory factor 4)
E43D (p.Glu43Asp) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- gnomAD 6-393281-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.72
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available