C216G (p.Cys216Gly) variant of RELA (Transcription factor p65)
C216G (p.Cys216Gly) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C216G (p.Cys216Gly) variant details
- p.Cys216Gly
- gnomAD rs1439792199
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.67
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available