R171S (p.Arg171Ser) variant of RELA (Transcription factor p65)
R171S (p.Arg171Ser) 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 0.33 / 1. The record also includes population frequency data.
R171S (p.Arg171Ser) variant details
- p.Arg171Ser
- rs746111744
- ExAC rs746111744
- TOPMed rs746111744
- gnomAD rs746111744
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.56
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)