I180V (p.Ile180Val) variant of E2F1 (Transcription factor E2F1)
I180V (p.Ile180Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
I180V (p.Ile180Val) variant details
- p.Ile180Val
- ESP rs377425346
- ExAC rs377425346
- gnomAD rs377425346
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)