R82Q (p.Arg82Gln) variant of TNF (Tumor necrosis factor)
R82Q (p.Arg82Gln) in TNF (Tumor necrosis factor) 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 0.18 / 1. The record also includes population frequency data and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- rs772270241
- ExAC rs772270241
- TOPMed rs772270241
- gnomAD rs772270241
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.16
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available