R113H (p.Arg113His) variant of E2F1 (Transcription factor E2F1)
R113H (p.Arg113His) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
R113H (p.Arg113His) variant details
- p.Arg113His
- ExAC rs768373441
- TOPMed rs768373441
- gnomAD rs768373441
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.09
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)