D7Y (p.Asp7Tyr) variant of TP53 (Cellular tumor antigen p53)
D7Y (p.Asp7Tyr) 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 and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- TOPMed rs587782646
- gnomAD rs587782646
- Uncertain significance
- in a sporadic cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.12
- 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 -2.05