T164I (p.Thr164Ile) variant of RELA (Transcription factor p65)
T164I (p.Thr164Ile) 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 0.35 / 1. The record also includes population frequency data and structural context.
T164I (p.Thr164Ile) variant details
- p.Thr164Ile
- rs1856517107
- ClinGen CA381393005
- ClinVar RCV003860219
- TOPMed rs1856517107
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.49
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available