E28V (p.Glu28Val) variant of TP53 (Cellular tumor antigen p53)
E28V (p.Glu28Val) 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; Adrenocortical carcinoma, hereditary; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes experimental measurements, published literature, and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- rs786202289
- ClinGen CA000449
- ClinVar RCV000165025
- ClinVar RCV001850309
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.96
- MetaSVM 0.84
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Adrenocortical carcinom)
- 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 -3.08
- 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)