L83F (p.Leu83Phe) variant of E2F1 (Transcription factor E2F1)
L83F (p.Leu83Phe) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
L83F (p.Leu83Phe) variant details
- p.Leu83Phe
- TOPMed rs1297124529
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.09
- Population evidence available