R149L (p.Arg149Leu) variant of RELA (Transcription factor p65)
R149L (p.Arg149Leu) in RELA (Transcription factor p65) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
R149L (p.Arg149Leu) variant details
- p.Arg149Leu
- ExAC rs761250712
- TOPMed rs761250712
- gnomAD rs761250712
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)