R6Q (p.Arg6Gln) variant of TNFRSF13C (Q96RJ3)
R6Q (p.Arg6Gln) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs1282859624
- ClinGen CA411763934
- ClinVar RCV004217723
- 1000Genomes rs1282859624
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.51
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)