V10I (p.Val10Ile) variant of TP53 (Cellular tumor antigen p53)
V10I (p.Val10Ile) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs535274413
- ClinGen CA000093
- cosmic curated COSV52756
- ClinVar RCV000115717
- Benign
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.98
- CADD 0.08
- ClinVar: Benign (Li-Fraumeni syndrome)
- EBI: Benign (in a sporadic cancer)
- UniProt: Benign (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)