A52S (p.Ala52Ser) variant of E2F1 (Transcription factor E2F1)
A52S (p.Ala52Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- TOPMed rs1320649718
- gnomAD rs1320649718
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.01
- CADD 8.27
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 3e-05)