H178D (p.His178Asp) variant of TP53 (Cellular tumor antigen p53)
H178D (p.His178Asp) 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 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H178D (p.His178Asp) variant details
- p.His178Asp
- rs1064795203
- ClinGen CA397841387
- NCI-TCGA Cosmic COSV5269
- cosmic curated COSV52693
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.07
- CADD 25.70
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- p53 variant effect measured by cell growth: score -2.86
- 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)