E158K (p.Glu158Lys) variant of E2F1 (Transcription factor E2F1)
E158K (p.Glu158Lys) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
E158K (p.Glu158Lys) variant details
- p.Glu158Lys
- ExAC rs759306871
- gnomAD rs759306871
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.14
- CADD 24.60
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)