A42G (p.Ala42Gly) variant of E2F1 (Transcription factor E2F1)
A42G (p.Ala42Gly) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- Ensembl rs2122554898
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.09
- CADD 14.60
- PolyPhen-2 0.08
- SIFT 0.41
- Most common in the HGDP:HEZHEN population (allele frequency 0.071)