P54A (p.Pro54Ala) variant of E2F1 (Transcription factor E2F1)
P54A (p.Pro54Ala) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
P54A (p.Pro54Ala) variant details
- p.Pro54Ala
- Ensembl rs1601190058
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.06
- CADD 6.47
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available