Q32E (p.Gln32Glu) variant of E2F1 (Transcription factor E2F1)
Q32E (p.Gln32Glu) 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.
Q32E (p.Gln32Glu) variant details
- p.Gln32Glu
- TOPMed rs2018067572
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.08
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.8e-05)