G57R (p.Gly57Arg) variant of E2F1 (Transcription factor E2F1)
G57R (p.Gly57Arg) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- 1000Genomes rs2122554775
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the 1KG:CHS population (allele frequency 0.0049)