Q5L (p.Gln5Leu) variant of TP53 (Cellular tumor antigen p53)
Q5L (p.Gln5Leu) 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 0.53 / 1. The record also includes experimental measurements and structural context.
Q5L (p.Gln5Leu) variant details
- p.Gln5Leu
- ExAC rs781595324
- TOPMed rs781595324
- gnomAD rs781595324
- Uncertain significance
- in a sporadic cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.92
- MetaSVM 0.74
- SIFT 0.11
- 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 -3.39