T49A (p.Thr49Ala) variant of E2F1 (Transcription factor E2F1)
T49A (p.Thr49Ala) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- Ensembl rs2018066953
- Missense
- Variant Prioritization Score for Impact Estimate 0.063
- REVEL 0.00
- CADD 1.72
- PolyPhen-2 0.00
- SIFT 0.84
- Population evidence available