R80Q (p.Arg80Gln) variant of E2F1 (Transcription factor E2F1)
R80Q (p.Arg80Gln) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- TOPMed rs1415762835
- gnomAD rs1415762835
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.08
- CADD 17.90
- PolyPhen-2 0.36
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)