P58S (p.Pro58Ser) variant of E2F1 (Transcription factor E2F1)
P58S (p.Pro58Ser) 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 0.09 / 1. The record also includes population frequency data.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- 1000Genomes rs1045481159
- TOPMed rs1045481159
- gnomAD rs1045481159
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0898
- REVEL 0.02
- CADD 4.67
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)