E28K (p.Glu28Lys) variant of TP53 (Cellular tumor antigen p53)
E28K (p.Glu28Lys) 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 Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes experimental measurements and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- cosmic curated COSV10458
- Ensembl rs2151045637
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- ESM-1b 0.51
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -3.08