L101P (p.Leu101Pro) variant of E2F1 (Transcription factor E2F1)
L101P (p.Leu101Pro) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- TOPMed rs1434158366
- gnomAD rs1434158366
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.07
- CADD 25.90
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)