R113C (p.Arg113Cys) variant of E2F1 (Transcription factor E2F1)
R113C (p.Arg113Cys) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
R113C (p.Arg113Cys) variant details
- p.Arg113Cys
- ExAC rs774045899
- TOPMed rs774045899
- gnomAD rs774045899
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.13
- CADD 28.80
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)