G200D (p.Gly200Asp) variant of E2F1 (Transcription factor E2F1)
G200D (p.Gly200Asp) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
G200D (p.Gly200Asp) variant details
- p.Gly200Asp
- ExAC rs754564586
- gnomAD rs754564586
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.11
- CADD 9.77
- PolyPhen-2 0.05
- SIFT 0.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)