E39Q (p.Glu39Gln) variant of RELA (Transcription factor p65)
E39Q (p.Glu39Gln) in RELA (Transcription factor p65) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- cosmic curated COSV58013
- TOPMed rs1268667021
- gnomAD rs1268667021
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.75
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.50
- CADD 26.90
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)