A78V (p.Ala78Val) variant of E2F1 (Transcription factor E2F1)
A78V (p.Ala78Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- Ensembl rs1601190008
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.09
- CADD 12.10
- PolyPhen-2 0.08
- SIFT 0.28
- Population evidence available