E61K (p.Glu61Lys) variant of TNFRSF13C (Q96RJ3)
E61K (p.Glu61Lys) 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 0.28 / 1. The record also includes population frequency data.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs1052712048
- ClinGen CA324633622
- ClinVar RCV000576214
- TOPMed rs1052712048
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.04
- CADD 17.20
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)