Q114R (p.Gln114Arg) variant of RELA (Transcription factor p65)
Q114R (p.Gln114Arg) 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 0.41 / 1.
Q114R (p.Gln114Arg) variant details
- p.Gln114Arg
- rs2135565673
- ClinGen CA381393752
- ClinVar RCV001900371
- Ensembl rs2135565673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.97
- MetaLR 0.23
- MetaSVM -0.62
- PolyPhen-2 0.88
- SIFT 0.08
- MutPred 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance