H145Y (p.His145Tyr) variant of E2F1 (Transcription factor E2F1)
H145Y (p.His145Tyr) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
H145Y (p.His145Tyr) variant details
- p.His145Tyr
- NCI-TCGA TCGA novel
- TOPMed rs2018002735
- gnomAD rs2018002735
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)