A39T (p.Ala39Thr) variant of E2F1 (Transcription factor E2F1)
A39T (p.Ala39Thr) 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.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- TOPMed rs2018067364
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.09
- CADD 13.90
- PolyPhen-2 0.16
- SIFT 0.22
- Population evidence available