G54E (p.Gly54Glu) variant of TNF (Tumor necrosis factor)
G54E (p.Gly54Glu) in TNF (Tumor necrosis factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Increased circulating interleukin 6 concentration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- ExAC rs756182468
- TOPMed rs756182468
- gnomAD rs756182468
- Uncertain significance
- Increased circulating interleukin 6 concentration
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.31
- ClinVar: Uncertain significance (Increased circulating interleukin 6 concentration)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0022)
- Structural context available