E2K (p.Glu2Lys) variant of TP53 (Cellular tumor antigen p53)
E2K (p.Glu2Lys) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs769884991
- ClinGen CA004009
- ClinVar RCV000579480
- ClinVar RCV000695387
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.55
- ESM-1b 0.62
- AlphaMissense 0.15
- CADD 23.90
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Li-Fraume)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- p53 variant effect measured by cell growth: score -2.68
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)