E17K (p.Glu17Lys) variant of TP53 (Cellular tumor antigen p53)
E17K (p.Glu17Lys) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes experimental measurements and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- cosmic curated COSV10458
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- ESM-1b 0.84
- AlphaMissense 0.63
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -2.25