D12G (p.Asp12Gly) variant of TNFRSF13C (Q96RJ3)
D12G (p.Asp12Gly) 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 0.13 / 1. The record also includes population frequency data.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- rs1215819338
- ClinGen CA411763862
- ClinVar RCV001954667
- TOPMed rs1215819338
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)