P58L (p.Pro58Leu) variant of E2F1 (Transcription factor E2F1)
P58L (p.Pro58Leu) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- TOPMed rs1249387152
- gnomAD rs1249387152
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.06
- CADD 14.40
- PolyPhen-2 0.10
- SIFT 0.17
- Most common in the East Asian population (allele frequency 8e-05)