E17V (p.Glu17Val) variant of E2F1 (Transcription factor E2F1)
E17V (p.Glu17Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- gnomAD rs1185589452
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.03
- CADD 19.90
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)