G57D (p.Gly57Asp) variant of E2F1 (Transcription factor E2F1)
G57D (p.Gly57Asp) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- 1000Genomes rs2122554773
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.07
- CADD 13.50
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the 1KG:PJL population (allele frequency 0.0052)