S121Y (p.Ser121Tyr) variant of E2F1 (Transcription factor E2F1)
S121Y (p.Ser121Tyr) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
S121Y (p.Ser121Tyr) variant details
- p.Ser121Tyr
- Ensembl rs2018003363
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.26
- CADD 27.10
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)