T18S (p.Thr18Ser) variant of TP53 (Cellular tumor antigen p53)
T18S (p.Thr18Ser) 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 0.57 / 1. The record also includes experimental measurements, published literature, and structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- rs2151047486
- ClinGen CA397848907
- ClinVar RCV001947634
- Ensembl rs2151047486
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.98
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.23
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -1.65
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)