A56V (p.Ala56Val) variant of E2F1 (Transcription factor E2F1)
A56V (p.Ala56Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- gnomAD rs2018066424
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.03
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the South Asian population (allele frequency 5.4e-05)