Q40H (p.Gln40His) variant of E2F1 (Transcription factor E2F1)
Q40H (p.Gln40His) 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.
Q40H (p.Gln40His) variant details
- p.Gln40His
- gnomAD rs2018067335
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- CADD 13.10
- PolyPhen-2 0.28
- SIFT 0.31
- Population evidence available