P122Q (p.Pro122Gln) variant of E2F1 (Transcription factor E2F1)
P122Q (p.Pro122Gln) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P122Q (p.Pro122Gln) variant details
- p.Pro122Gln
- 1000Genomes rs200324089
- ExAC rs200324089
- TOPMed rs200324089
- gnomAD rs200324089
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.23
- CADD 27.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.02)