R166W (p.Arg166Trp) variant of RELA (Transcription factor p65)
R166W (p.Arg166Trp) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R166W (p.Arg166Trp) variant details
- p.Arg166Trp
- rs568782744
- ClinGen CA6106869
- NCI-TCGA Cosmic COSV5801
- cosmic curated COSV58014
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.25
- CADD 24.50
- PolyPhen-2 0.67
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)