E124G (p.Glu124Gly) variant of E2F1 (Transcription factor E2F1)
E124G (p.Glu124Gly) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
E124G (p.Glu124Gly) variant details
- p.Glu124Gly
- ExAC rs748471303
- gnomAD rs748471303
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)