D97H (p.Asp97His) variant of E2F1 (Transcription factor E2F1)
D97H (p.Asp97His) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
D97H (p.Asp97His) variant details
- p.Asp97His
- ExAC rs758760049
- gnomAD rs758760049
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.16
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)