G150R (p.Gly150Arg) variant of RELA (Transcription factor p65)
G150R (p.Gly150Arg) 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 0.37 / 1. The record also includes population frequency data.
G150R (p.Gly150Arg) variant details
- p.Gly150Arg
- rs2496854987
- ClinGen CA381393167
- ClinVar RCV002608779
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.07
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)