S18I (p.Ser18Ile) variant of IRF4 (Interferon regulatory factor 4)
S18I (p.Ser18Ile) in IRF4 (Interferon regulatory factor 4) 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 0.72 / 1. The record also includes population frequency data and structural context.
S18I (p.Ser18Ile) variant details
- p.Ser18Ile
- TOPMed rs1000698747
- gnomAD rs1000698747
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available