G192A (p.Gly192Ala) variant of E2F1 (Transcription factor E2F1)
G192A (p.Gly192Ala) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
G192A (p.Gly192Ala) variant details
- p.Gly192Ala
- ExAC rs776055929
- gnomAD rs776055929
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.001)