A8E (p.Ala8Glu) variant of E2F1 (Transcription factor E2F1)
A8E (p.Ala8Glu) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- 1000Genomes rs974575261
- TOPMed rs974575261
- gnomAD rs974575261
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- CADD 18.80
- PolyPhen-2 0.31
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00012)