A52T (p.Ala52Thr) variant of E2F1 (Transcription factor E2F1)
A52T (p.Ala52Thr) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.02
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available