G28E (p.Gly28Glu) variant of TNFRSF13B (O14836)
G28E (p.Gly28Glu) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- rs1364325591
- ClinGen CA398520524
- ClinVar RCV001373102
- TOPMed rs1364325591
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.25
- CADD 13.10
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available