R96Q (p.Arg96Gln) variant of RELA (Transcription factor p65)
R96Q (p.Arg96Gln) 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 0.32 / 1. The record also includes population frequency data.
R96Q (p.Arg96Gln) variant details
- p.Arg96Gln
- gnomAD rs11557248
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.07
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)