I35V (p.Ile35Val) variant of E2F1 (Transcription factor E2F1)
I35V (p.Ile35Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- TOPMed rs1300481628
- gnomAD rs1300481628
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)