R2K (p.Arg2Lys) variant of TNFRSF13C (Q96RJ3)
R2K (p.Arg2Lys) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- rs2077635510
- ClinGen CA411763973
- ClinVar RCV003611928
- TOPMed rs2077635510
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0987
- REVEL 0.01
- CADD 0.18
- PolyPhen-2 0.03
- SIFT 0.57
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)