W34* (p.Trp34Ter) variant of BARD1 (Q99728)
W34* (p.Trp34Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
W34* (p.Trp34Ter) variant details
- p.Trp34Ter
- rs876659387
- ClinGen CA350465031
- ClinVar RCV003335654
- ClinVar RCV004949079
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 42.00
- 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)