R73C (p.Arg73Cys) variant of RELA (Transcription factor p65)
R73C (p.Arg73Cys) 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 0.68 / 1. The record also includes population frequency data.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- rs151125290
- ClinGen CA224011109
- cosmic curated COSV58014
- ClinVar RCV001988881
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)