R124W (p.Arg124Trp) variant of RELA (Transcription factor p65)
R124W (p.Arg124Trp) 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 0.50 / 1. The record also includes population frequency data.
R124W (p.Arg124Trp) variant details
- p.Arg124Trp
- rs1856528845
- ClinGen CA381393609
- NCI-TCGA Cosmic COSV5801
- cosmic curated COSV58013
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.34
- CADD 32.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)