C50S (p.Cys50Ser) variant of TNFRSF13B (O14836)
C50S (p.Cys50Ser) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
C50S (p.Cys50Ser) variant details
- p.Cys50Ser
- rs1348604020
- ClinGen CA398520389
- ClinVar RCV003082507
- TOPMed rs1348604020
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.85
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)