A8V (p.Ala8Val) variant of E2F1 (Transcription factor E2F1)
A8V (p.Ala8Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- 1000Genomes rs974575261
- TOPMed rs974575261
- gnomAD rs974575261
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.04
- CADD 18.80
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the 1KG:JPT population (allele frequency 0.015)