S15G (p.Ser15Gly) variant of TP53 (Cellular tumor antigen p53)
S15G (p.Ser15Gly) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, 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 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- Ensembl rs2073520545
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- p53 variant effect measured by cell growth: score -2.99