Q16H (p.Gln16His) variant of TP53 (Cellular tumor antigen p53)
Q16H (p.Gln16His) 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 1; Li-Fraumeni syndrome; Adrenocortical carcinoma, heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- rs1597376489
- ClinGen CA397848970
- ClinVar RCV000796121
- ClinVar RCV003141781
- Uncertain significance
- Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Adrenocortical carcinoma, heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.97
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Adrenocortical car)
- 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: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)