S9G (p.Ser9Gly) variant of TP53 (Cellular tumor antigen p53)
S9G (p.Ser9Gly) 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 0.52 / 1. The record also includes experimental measurements and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- cosmic curated COSV53269
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.96
- MetaSVM 0.87
- SIFT 0.18
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -1.5