C66* (p.Cys66Ter) variant of TNFRSF13B (O14836)
C66* (p.Cys66Ter) 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 0.56 / 1. The record also includes population frequency data and structural context.
C66* (p.Cys66Ter) variant details
- p.Cys66Ter
- rs144718007
- ClinGen CA8414090
- ClinVar RCV001043041
- ClinVar RCV001254048
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available