V10F (p.Val10Phe) variant of TP53 (Cellular tumor antigen p53)
V10F (p.Val10Phe) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V10F (p.Val10Phe) variant details
- p.Val10Phe
- rs535274413
- ClinGen CA397849217
- ClinVar RCV001243833
- ClinVar RCV003294139
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.98
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Benign (in a sporadic cancer)
- UniProt: Benign (in a sporadic cancer)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 0.618
- 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)