E19* (p.Glu19Ter) variant of BARD1 (Q99728)
E19* (p.Glu19Ter) in BARD1 (Q99728) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs752514155
- ClinGen CA2090530
- ClinVar RCV000215389
- ClinVar RCV000458694
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)