S77R (p.Ser77Arg) variant of E2F1 (Transcription factor E2F1)
S77R (p.Ser77Arg) 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 0.20 / 1. The record also includes population frequency data.
S77R (p.Ser77Arg) variant details
- p.Ser77Arg
- rs2515398621
- ClinGen CA408655064
- ClinVar RCV004382111
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.05
- CADD 15.10
- PolyPhen-2 0.02
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0052)