T78N (p.Thr78Asn) variant of RELA (Transcription factor p65)
T78N (p.Thr78Asn) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
T78N (p.Thr78Asn) variant details
- p.Thr78Asn
- rs1178830994
- ClinGen CA381394487
- ClinVar RCV003002810
- TOPMed rs1178830994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.44
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)