D21E (p.Asp21Glu) variant of TP53 (Cellular tumor antigen p53)
D21E (p.Asp21Glu) 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 Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- rs1800369
- ClinGen CA003831
- ClinVar RCV003509873
- ClinVar RCV005505680
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.88
- MetaSVM 0.59
- PolyPhen-2 0.12
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- p53 variant effect measured by cell growth: score -3.41
- 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)