T130S (p.Thr130Ser) variant of E2F1 (Transcription factor E2F1)
T130S (p.Thr130Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
T130S (p.Thr130Ser) variant details
- p.Thr130Ser
- ExAC rs779392416
- gnomAD rs779392416
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.36
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)