V10G (p.Val10Gly) variant of TP53 (Cellular tumor antigen p53)
V10G (p.Val10Gly) 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 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V10G (p.Val10Gly) variant details
- p.Val10Gly
- rs1418778734
- ClinGen CA397849194
- cosmic curated COSV52797
- ClinVar RCV001017901
- Conflicting interpretations
- Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 0.88
- CADD 13.50
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)