Y100C (p.Tyr100Cys) variant of E2F1 (Transcription factor E2F1)
Y100C (p.Tyr100Cys) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
Y100C (p.Tyr100Cys) variant details
- p.Tyr100Cys
- ExAC rs753190783
- gnomAD rs753190783
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.14
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)