T196I (p.Thr196Ile) variant of E2F1 (Transcription factor E2F1)
T196I (p.Thr196Ile) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
T196I (p.Thr196Ile) variant details
- p.Thr196Ile
- TOPMed rs1862522190
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.04
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)