A161D (p.Ala161Asp) variant of TP53 (Cellular tumor antigen p53)
A161D (p.Ala161Asp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A161D (p.Ala161Asp) variant details
- p.Ala161Asp
- rs1064795691
- ClinGen CA16620630
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5274
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.40
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Li-Fraume)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score -1.85
- 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)