V143A (p.Val143Ala) variant of TP53 (Cellular tumor antigen p53)
V143A (p.Val143Ala) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
V143A (p.Val143Ala) variant details
- p.Val143Ala
- rs1555526241
- ClinGen CA397842518
- NCI-TCGA Cosmic COSV5273
- NCI-TCGA Cosmic COSV5276
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score 0.287
- Cited in: Hzf Determines cell survival upon genotoxic stress by modulating p53 transactivation. (PMID 17719541)
- Cited in: A temperature-sensitive mutant of human p53. (PMID 8013454)