H179D (p.His179Asp) variant of TP53 (Cellular tumor antigen p53)
H179D (p.His179Asp) 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 Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
H179D (p.His179Asp) variant details
- p.His179Asp
- rs587780070
- ClinGen CA16603031
- NCI-TCGA Cosmic COSV5266
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Adrenocor)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score 1.08
- 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)