A138V (p.Ala138Val) variant of TP53 (Cellular tumor antigen p53)
A138V (p.Ala138Val) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A138V (p.Ala138Val) variant details
- p.Ala138Val
- rs750600586
- cosmic curated COSV53577
- ClinGen CA000168
- NCI-TCGA Cosmic COSV5266
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.96
- CADD 25.80
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score -0.0247
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)
- Cited in: Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3. (PMID 27657329)