G4E (p.Gly4Glu) variant of TNFRSF13C (Q96RJ3)
G4E (p.Gly4Glu) 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 0.14 / 1. The record also includes population frequency data.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs2077635455
- ClinGen CA411763948
- ClinVar RCV001369488
- TOPMed rs2077635455
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.04
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)