Q104* (p.Gln104Ter) variant of TNFRSF9 (Q07011)
Q104* (p.Gln104Ter) in TNFRSF9 (Q07011) 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 0.31 / 1. The record also includes population frequency data and structural context.
Q104* (p.Gln104Ter) variant details
- p.Gln104Ter
- rs2527270896
- ClinGen CA338160364
- ClinVar RCV002835008
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available