D80E (p.Asp80Glu) variant of RELA (Transcription factor p65)
D80E (p.Asp80Glu) in RELA (Transcription factor p65) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
D80E (p.Asp80Glu) variant details
- p.Asp80Glu
- ExAC rs761767619
- TOPMed rs761767619
- gnomAD rs761767619
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 7e-05)