L63R (p.Leu63Arg) variant of E2F1 (Transcription factor E2F1)
L63R (p.Leu63Arg) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
L63R (p.Leu63Arg) variant details
- p.Leu63Arg
- gnomAD rs2018066194
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)