Q119* (p.Gln119Ter) variant of RELA (Transcription factor p65)
Q119* (p.Gln119Ter) in RELA (Transcription factor p65) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q119* (p.Gln119Ter) variant details
- p.Gln119Ter
- rs2496858372
- ClinGen CA381393698
- ClinVar RCV003708989
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic