A42S (p.Ala42Ser) variant of E2F1 (Transcription factor E2F1)
A42S (p.Ala42Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- Ensembl rs2018067277
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.05
- CADD 12.40
- PolyPhen-2 0.07
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 9.8e-06)