R201Q (p.Arg201Gln) variant of RELA (Transcription factor p65)
R201Q (p.Arg201Gln) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R201Q (p.Arg201Gln) variant details
- p.Arg201Gln
- ExAC rs755895938
- TOPMed rs755895938
- gnomAD rs755895938
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- AlphaMissense 0.95
- MetaLR 0.07
- MetaSVM -1.09
- CADD 27.20
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)