E147G (p.Glu147Gly) variant of RELA (Transcription factor p65)
E147G (p.Glu147Gly) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
E147G (p.Glu147Gly) variant details
- p.Glu147Gly
- gnomAD rs1469104216
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.16
- CADD 31.00
- PolyPhen-2 0.75
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)