F12L (p.Phe12Leu) variant of IRF4 (Interferon regulatory factor 4)
F12L (p.Phe12Leu) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- rs546956488
- ClinGen CA133329015
- ClinVar RCV002047135
- ClinVar RCV006424823
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.65
- MutPred 0.26
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available