R109P (p.Arg109Pro) variant of E2F1 (Transcription factor E2F1)
R109P (p.Arg109Pro) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R109P (p.Arg109Pro) variant details
- p.Arg109Pro
- 1000Genomes rs199740633
- TOPMed rs199740633
- gnomAD rs199740633
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.12
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)