D7H (p.Asp7His) variant of TP53 (Cellular tumor antigen p53)
D7H (p.Asp7His) 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; Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D7H (p.Asp7His) variant details
- p.Asp7His
- rs587782646
- ClinGen CA000065
- cosmic curated COSV53068
- ClinVar RCV000132048
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.98
- MetaSVM 1.02
- CADD 23.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Li-Fraume)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- p53 variant effect measured by cell growth: score -2.05
- 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)