E2Q (p.Glu2Gln) variant of TP53 (Cellular tumor antigen p53)
E2Q (p.Glu2Gln) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- ExAC rs769884991
- TOPMed rs769884991
- gnomAD rs769884991
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.93
- MetaSVM 0.77
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -2.68