V143M (p.Val143Met) variant of TP53 (Cellular tumor antigen p53)
V143M (p.Val143Met) 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 Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V143M (p.Val143Met) variant details
- p.Val143Met
- rs587782620
- ClinGen CA000176
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52665
- Pathogenic/Likely pathogenic
- Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.99
- MetaSVM 1.05
- CADD 24.10
- ClinVar: Pathogenic/Likely pathogenic (Adrenocortical carcinoma, hereditary; Familial cancer of breast;)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- p53 variant effect measured by cell growth: score 0.287
- Cited in: American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. (PMID 17954709)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)