H179Q (p.His179Gln) variant of TP53 (Cellular tumor antigen p53)
H179Q (p.His179Gln) 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 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H179Q (p.His179Gln) variant details
- p.His179Gln
- rs876660821
- ClinGen CA16603028
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 12.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 1.08
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)