A48T (p.Ala48Thr) variant of TNFRSF13C (Q96RJ3)
A48T (p.Ala48Thr) 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 0.06 / 1. The record also includes population frequency data.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- rs1407623179
- ClinGen CA411763413
- ClinVar RCV001950658
- TOPMed rs1407623179
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0551
- REVEL 0.02
- CADD 6.75
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available