A2T (p.Ala2Thr) variant of E2F1 (Transcription factor E2F1)
A2T (p.Ala2Thr) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- Ensembl rs2122555202
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.08
- CADD 23.90
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available