R42Q (p.Arg42Gln) variant of TNFRSF13C (Q96RJ3)
R42Q (p.Arg42Gln) 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 0.10 / 1. The record also includes population frequency data.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs2518791960
- ClinGen CA411763504
- ClinVar RCV004303598
- NCI-TCGA TCGA novel
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- REVEL 0.01
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available