R138H (p.Arg138His) variant of E2F1 (Transcription factor E2F1)
R138H (p.Arg138His) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R138H (p.Arg138His) variant details
- p.Arg138His
- gnomAD rs2018002858
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.34
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)