R84Q (p.Arg84Gln) variant of RELA (Transcription factor p65)
R84Q (p.Arg84Gln) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- cosmic curated COSV58016
- ExAC rs752869747
- gnomAD rs752869747
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.19
- CADD 29.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)