P122L (p.Pro122Leu) variant of E2F1 (Transcription factor E2F1)
P122L (p.Pro122Leu) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
P122L (p.Pro122Leu) variant details
- p.Pro122Leu
- 1000Genomes rs200324089
- ExAC rs200324089
- TOPMed rs200324089
- gnomAD rs200324089
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.17
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00014)