Y220H (p.Tyr220His) variant of TP53 (Cellular tumor antigen p53)
Y220H (p.Tyr220His) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y220H (p.Tyr220His) variant details
- p.Tyr220His
- rs530941076
- ClinGen CA002135
- NCI-TCGA Cosmic COSV5269
- NCI-TCGA Cosmic COSV5270
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.97
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Adrenocortical carcinom)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- 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)