K164E (p.Lys164Glu) variant of TP53 (Cellular tumor antigen p53)
K164E (p.Lys164Glu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K164E (p.Lys164Glu) variant details
- p.Lys164Glu
- rs879254249
- ClinGen CA10584591
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5270
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.40
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- p53 variant effect measured by cell growth: score 0.464
- 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)