R166H (p.Arg166His) variant of E2F1 (Transcription factor E2F1)
R166H (p.Arg166His) 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 Prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
R166H (p.Arg166His) variant details
- p.Arg166His
- rs864622017
- ClinGen CA348785
- NCI-TCGA Cosmic COSV5853
- ClinVar RCV000204567
- Uncertain significance
- Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Prostate cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)