V31F (p.Val31Phe) variant of TP53 (Cellular tumor antigen p53)
V31F (p.Val31Phe) 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 Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V31F (p.Val31Phe) variant details
- p.Val31Phe
- rs201753350
- ClinGen CA10580962
- ClinVar RCV000222526
- ClinVar RCV001854708
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 1.46
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Benign (in sporadic cancers)
- UniProt: Benign (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 0.465
- 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)