D60Y (p.Asp60Tyr) variant of E2F1 (Transcription factor E2F1)
D60Y (p.Asp60Tyr) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
D60Y (p.Asp60Tyr) variant details
- p.Asp60Tyr
- TOPMed rs2018066324
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.05
- CADD 19.30
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available