Y220D (p.Tyr220Asp) variant of TP53 (Cellular tumor antigen p53)
Y220D (p.Tyr220Asp) 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 1; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y220D (p.Tyr220Asp) variant details
- p.Tyr220Asp
- rs530941076
- ClinGen CA16603102
- NCI-TCGA Cosmic COSV5269
- cosmic curated COSV52691
- Conflicting interpretations
- Li-Fraumeni syndrome 1; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.97
- CADD 31.00
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome 1; Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)