E180K (p.Glu180Lys) variant of TP53 (Cellular tumor antigen p53)
E180K (p.Glu180Lys) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
E180K (p.Glu180Lys) variant details
- p.Glu180Lys
- rs879253911
- ClinGen CA10584590
- NCI-TCGA Cosmic COSV5269
- NCI-TCGA Cosmic COSV5281
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Structural context available
- p53 variant effect measured by cell growth: score 0.309
- 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)