K132E (p.Lys132Glu) variant of TP53 (Cellular tumor antigen p53)
K132E (p.Lys132Glu) 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 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K132E (p.Lys132Glu) variant details
- p.Lys132Glu
- rs747342068
- ClinGen CA002647
- NCI-TCGA Cosmic COSV5268
- cosmic curated COSV52689
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- CADD 31.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Li-Fraume)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- p53 variant effect measured by cell growth: score -2.38
- 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)