A67S (p.Ala67Ser) variant of TNFRSF13C (Q96RJ3)
A67S (p.Ala67Ser) 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 0.03 / 1. The record also includes population frequency data.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- rs1050585658
- ClinGen CA411763294
- ClinVar RCV002302153
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0322
- REVEL 0.01
- CADD 0.17
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available