E45Q (p.Glu45Gln) variant of IRF4 (Interferon regulatory factor 4)
E45Q (p.Glu45Gln) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs934099606
- ClinGen CA133329147
- ClinVar RCV003811967
- TOPMed rs934099606
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 0.70
- SIFT 0.28
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available