L203H (p.Leu203His) variant of E2F1 (Transcription factor E2F1)
L203H (p.Leu203His) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
L203H (p.Leu203His) variant details
- p.Leu203His
- 1000Genomes rs546049774
- gnomAD rs546049774
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.31
- CADD 16.20
- Most common in the 1KG:CDX population (allele frequency 0.0057)