E193Q (p.Glu193Gln) variant of RELA (Transcription factor p65)
E193Q (p.Glu193Gln) in RELA (Transcription factor p65) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E193Q (p.Glu193Gln) variant details
- p.Glu193Gln
- TOPMed rs1308599130
- gnomAD rs1308599130
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.23
- CADD 25.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available