G9S (p.Gly9Ser) variant of IRF4 (Interferon regulatory factor 4)
G9S (p.Gly9Ser) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs1285362149
- TOPMed rs1285362149
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.41
- MutPred 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 6.3e-05)
- Structural context available