Y128F (p.Tyr128Phe) variant of E2F1 (Transcription factor E2F1)
Y128F (p.Tyr128Phe) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
Y128F (p.Tyr128Phe) variant details
- p.Tyr128Phe
- TOPMed rs1349182634
- gnomAD rs1349182634
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.35
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)