R96W (p.Arg96Trp) variant of RELA (Transcription factor p65)
R96W (p.Arg96Trp) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
R96W (p.Arg96Trp) variant details
- p.Arg96Trp
- rs759715841
- ClinGen CA6106940
- ClinVar RCV001965660
- ClinVar RCV004656784
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.22
- CADD 29.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00096)