Q16K (p.Gln16Lys) variant of TP53 (Cellular tumor antigen p53)
Q16K (p.Gln16Lys) 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 0.60 / 1. The record also includes experimental measurements, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- rs2151047550
- ClinGen CA397849034
- ClinVar RCV001882571
- ClinVar RCV002334579
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- ESM-1b 0.00
- AlphaMissense 0.57
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -3.51
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)