D7E (p.Asp7Glu) variant of TP53 (Cellular tumor antigen p53)
D7E (p.Asp7Glu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D7E (p.Asp7Glu) variant details
- p.Asp7Glu
- rs587781277
- ClinGen CA397849316
- ClinVar RCV000574520
- TOPMed rs587781277
- Likely benign
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.05
- PolyPhen-2 0.09
- SIFT 0.43
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)