L14V (p.Leu14Val) variant of TP53 (Cellular tumor antigen p53)
L14V (p.Leu14Val) 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; Li-Fraumeni syndr. 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.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs1567558112
- ClinGen CA397849099
- ClinVar RCV000699996
- ClinVar RCV001187937
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; L)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- p53 variant effect measured by cell growth: score -2.41
- 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)