E45V (p.Glu45Val) variant of IRF4 (Interferon regulatory factor 4)
E45V (p.Glu45Val) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- gnomAD 6-393286-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.69
- CADD 26.30
- PolyPhen-2 0.48
- SIFT 0.11
- MutPred 0.43
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- Literature evidence available