G68R (p.Gly68Arg) variant of TNFRSF13C (Q96RJ3)
G68R (p.Gly68Arg) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- ExAC rs756436527
- TOPMed rs756436527
- gnomAD rs756436527
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.08
- CADD 9.88
- PolyPhen-2 0.52
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)