D93E (p.Asp93Glu) variant of E2F1 (Transcription factor E2F1)
D93E (p.Asp93Glu) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
D93E (p.Asp93Glu) variant details
- p.Asp93Glu
- 1000Genomes rs560305222
- ExAC rs560305222
- TOPMed rs560305222
- gnomAD rs560305222
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.46
- SIFT 0.25
- Most common in the 1KG:CDX population (allele frequency 0.0057)