R133C (p.Arg133Cys) variant of RELA (Transcription factor p65)
R133C (p.Arg133Cys) 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 0.57 / 1.
R133C (p.Arg133Cys) variant details
- p.Arg133Cys
- rs1856528412
- ClinGen CA381393486
- ClinVar RCV003711377
- TOPMed rs1856528412
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance