Q148* (p.Gln148Ter) variant of RELA (Transcription factor p65)
Q148* (p.Gln148Ter) 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 0.37 / 1.
Q148* (p.Gln148Ter) variant details
- p.Gln148Ter
- rs1590937041
- ClinGen CA381393200
- ClinVar RCV003681959
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.35
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.96
- SIFT 0.30
- MutPred 0.52
- EBI: Pathogenic
- UniProt: Pathogenic