T135I (p.Thr135Ile) variant of E2F1 (Transcription factor E2F1)
T135I (p.Thr135Ile) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T135I (p.Thr135Ile) variant details
- p.Thr135Ile
- ExAC rs755388533
- gnomAD rs755388533
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available