E23G (p.Glu23Gly) variant of TNFRSF13C (Q96RJ3)
E23G (p.Glu23Gly) 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 0.22 / 1. The record also includes population frequency data and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs2518792060
- ClinGen CA411763735
- ClinVar RCV003613436
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 19.70
- PolyPhen-2 0.40
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available