Y100F (p.Tyr100Phe) variant of E2F1 (Transcription factor E2F1)
Y100F (p.Tyr100Phe) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
Y100F (p.Tyr100Phe) variant details
- p.Tyr100Phe
- ExAC rs753190783
- gnomAD rs753190783
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.14
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)