A13P (p.Ala13Pro) variant of E2F1 (Transcription factor E2F1)
A13P (p.Ala13Pro) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- TOPMed rs2018068417
- gnomAD rs2018068417
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.05
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)