E2D (p.Glu2Asp) variant of TP53 (Cellular tumor antigen p53)
E2D (p.Glu2Asp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- ESP rs143458271
- ExAC rs143458271
- TOPMed rs143458271
- gnomAD rs143458271
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- EBI: Benign
- UniProt: Benign
- Structural context available
- p53 variant effect measured by cell growth: score -2.68