S18N (p.Ser18Asn) variant of IRF4 (Interferon regulatory factor 4)
S18N (p.Ser18Asn) 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 0.51 / 1. The record also includes population frequency data and structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- rs1000698747
- ClinGen CA133329066
- ClinVar RCV003826813
- TOPMed rs1000698747
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.19
- SIFT 0.06
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available