S18T (p.Ser18Thr) variant of IRF4 (Interferon regulatory factor 4)
S18T (p.Ser18Thr) 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 0.61 / 1. The record also includes population frequency data and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- rs1000698747
- ClinGen CA362546320
- ClinVar RCV003730844
- TOPMed rs1000698747
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.57
- CADD 25.70
- PolyPhen-2 0.87
- SIFT 0.09
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.9e-05)
- Structural context available