R9* (p.Arg9Ter) variant of TNFRSF13B (O14836)
R9* (p.Arg9Ter) in TNFRSF13B (O14836) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- rs1383649750
- ClinGen CA398520647
- ClinVar RCV001945527
- gnomAD rs1383649750
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)