G23S (p.Gly23Ser) variant of E2F1 (Transcription factor E2F1)
G23S (p.Gly23Ser) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- TOPMed rs1405640419
- gnomAD rs1405640419
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.03
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)