R174C (p.Arg174Cys) variant of RELA (Transcription factor p65)
R174C (p.Arg174Cys) 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 0.20 / 1. The record also includes population frequency data and structural context.
R174C (p.Arg174Cys) variant details
- p.Arg174Cys
- rs1159602684
- ClinGen CA381392839
- NCI-TCGA Cosmic COSV5801
- cosmic curated COSV58014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available