N29K (p.Asn29Lys) variant of TP53 (Cellular tumor antigen p53)
N29K (p.Asn29Lys) 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; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- rs1011445550
- ClinGen CA287489276
- ClinVar RCV000791608
- ClinVar RCV002256499
- Uncertain significance
- Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.93
- MetaSVM 0.61
- PolyPhen-2 0.78
- SIFT 0.04
- ClinVar: Uncertain significance (Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score -0.641
- 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)