H193P (p.His193Pro) variant of TP53 (Cellular tumor antigen p53)
H193P (p.His193Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
H193P (p.His193Pro) variant details
- p.His193Pro
- rs786201838
- ClinGen CA16603033
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.50
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- 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)