A44D (p.Ala44Asp) variant of E2F1 (Transcription factor E2F1)
A44D (p.Ala44Asp) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
A44D (p.Ala44Asp) variant details
- p.Ala44Asp
- Ensembl rs2018067148
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- CADD 11.60
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available