F12V (p.Phe12Val) variant of IRF4 (Interferon regulatory factor 4)
F12V (p.Phe12Val) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- gnomAD 6-393186-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.50
- MutPred 0.27
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available