E11K (p.Glu11Lys) variant of TP53 (Cellular tumor antigen p53)
E11K (p.Glu11Lys) 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 Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- rs201382018
- ClinGen CA003910
- NCI-TCGA Cosmic COSV5274
- NCI-TCGA Cosmic COSV5293
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Li-Fraume)
- EBI: Likely benign (in sporadic cancers)
- UniProt: Likely benign (in sporadic cancers)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- p53 variant effect measured by cell growth: score -2.37
- 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)