A55S (p.Ala55Ser) variant of E2F1 (Transcription factor E2F1)
A55S (p.Ala55Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- gnomAD rs13041707
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- REVEL 0.01
- CADD 4.58
- PolyPhen-2 0.05
- SIFT 0.43
- Population evidence available