E84Q (p.Glu84Gln) variant of IRF7 (Interferon regulatory factor 7)
E84Q (p.Glu84Gln) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E84Q (p.Glu84Gln) variant details
- p.Glu84Gln
- TOPMed rs751995586
- gnomAD rs751995586
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.34
- MetaLR 0.79
- MetaSVM 0.11
- CADD 13.90
- PolyPhen-2 1.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available