V34L (p.Val34Leu) variant of E2F1 (Transcription factor E2F1)
V34L (p.Val34Leu) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- TOPMed rs1456437519
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00011)