D7N (p.Asp7Asn) variant of TP53 (Cellular tumor antigen p53)
D7N (p.Asp7Asn) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- rs587782646
- ClinGen CA397849365
- ClinVar RCV002417095
- TOPMed rs587782646
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -2.05
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)