P76S (p.Pro76Ser) variant of E2F1 (Transcription factor E2F1)
P76S (p.Pro76Ser) 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 0.17 / 1. The record also includes population frequency data.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- rs907590073
- ClinGen CA313290931
- ClinVar RCV004172818
- TOPMed rs907590073
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.03
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.5e-05)