P54L (p.Pro54Leu) variant of E2F1 (Transcription factor E2F1)
P54L (p.Pro54Leu) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- TOPMed rs1252483725
- gnomAD rs1252483725
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.01
- CADD 12.00
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 0.00013)