H193L (p.His193Leu) variant of TP53 (Cellular tumor antigen p53)
H193L (p.His193Leu) 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; Li-Fraumeni syndrome 1; Li-Fraumeni syn. 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.
H193L (p.His193Leu) variant details
- p.His193Leu
- rs786201838
- ClinGen CA000276
- NCI-TCGA Cosmic COSV5266
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- 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)