R33C (p.Arg33Cys) variant of RELA (Transcription factor p65)
R33C (p.Arg33Cys) 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 0.72 / 1. The record also includes population frequency data and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- rs2496869967
- ClinGen CA381394994
- ClinVar RCV002296204
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.81
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available