A108D (p.Ala108Asp) variant of E2F1 (Transcription factor E2F1)
A108D (p.Ala108Asp) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
A108D (p.Ala108Asp) variant details
- p.Ala108Asp
- TOPMed rs1159129500
- gnomAD rs1159129500
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.04
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)