C238Y (p.Cys238Tyr) variant of TP53 (Cellular tumor antigen p53)
C238Y (p.Cys238Tyr) 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 Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C238Y (p.Cys238Tyr) variant details
- p.Cys238Tyr
- rs730882005
- Civic 2648
- ClinGen CA000351
- NCI-TCGA Cosmic COSV5266
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Adrenocor)
- EBI: Pathogenic (in a familial cancer not matching LFS)
- UniProt: Pathogenic (in a familial cancer not matching LFS)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. (PMID 11051239)
- Cited in: Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. (PMID 21343334)