E39* (p.Glu39Ter) variant of RELA (Transcription factor p65)
E39* (p.Glu39Ter) in RELA (Transcription factor p65) 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 0.72 / 1.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- rs1268667021
- ClinGen CA381394948
- ClinVar RCV001953505
- TOPMed rs1268667021
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- EBI: Pathogenic
- UniProt: Pathogenic