E28A (p.Glu28Ala) variant of TP53 (Cellular tumor antigen p53)
E28A (p.Glu28Ala) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a sporadic cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements, published literature, and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- UniProt VAR 044553
- Uncertain significance
- in a sporadic cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- 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: Aurora B interacts with NIR-p53, leading to p53 phosphorylation in its DNA-binding domain and subsequent functional… (PMID 20959462)