C47* (p.Cys47Ter) variant of TNFRSF13B (O14836)
C47* (p.Cys47Ter) in TNFRSF13B (O14836) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C47* (p.Cys47Ter) variant details
- p.Cys47Ter
- TOPMed rs1002042381
- gnomAD rs1002042381
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available