A48S (p.Ala48Ser) variant of TNFRSF13C (Q96RJ3)
A48S (p.Ala48Ser) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- TOPMed rs1407623179
- gnomAD rs1407623179
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0513
- REVEL 0.03
- CADD 2.57
- PolyPhen-2 0.03
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available