L28F (p.Leu28Phe) variant of E2F1 (Transcription factor E2F1)
L28F (p.Leu28Phe) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs1160676980
- gnomAD rs1160676980
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.05
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available