E103D (p.Glu103Asp) variant of E2F1 (Transcription factor E2F1)
E103D (p.Glu103Asp) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
E103D (p.Glu103Asp) variant details
- p.Glu103Asp
- 1000Genomes rs577941795
- ExAC rs577941795
- gnomAD rs577941795
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the 1KG:CHB population (allele frequency 0.0049)