E27* (p.Glu27Ter) variant of BARD1 (Q99728)
E27* (p.Glu27Ter) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs587780037
- ClinGen CA350465133
- ClinVar RCV000508001
- ClinVar RCV000574708
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)