A78S (p.Ala78Ser) variant of E2F1 (Transcription factor E2F1)
A78S (p.Ala78Ser) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- rs1306675586
- ClinGen CA408655059
- ClinVar RCV004314932
- TOPMed rs1306675586
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.02
- CADD 9.92
- PolyPhen-2 0.03
- SIFT 0.73
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.5e-06)