C12Y (p.Cys12Tyr) variant of E2F1 (Transcription factor E2F1)
C12Y (p.Cys12Tyr) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- TOPMed rs2018068494
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.02
- CADD 13.50
- PolyPhen-2 0.02
- SIFT 0.44
- Population evidence available