H193R (p.His193Arg) variant of TP53 (Cellular tumor antigen p53)
H193R (p.His193Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Squamous cell carcinoma of the head and neck; Hereditary cancer-predisposing 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.
H193R (p.His193Arg) variant details
- p.His193Arg
- rs786201838
- ClinGen CA000274
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52662
- Pathogenic/Likely pathogenic
- Squamous cell carcinoma of the head and neck; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Squamous cell carcinoma of the head and neck; Hereditary cancer-)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. (PMID 7887414)