W5* (p.Trp5Ter) variant of BRIP1 (Fanconi anemia group J protein)
W5* (p.Trp5Ter) in BRIP1 (Fanconi anemia group J protein) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- rs2078973424
- ClinGen CA400486071
- ClinVar RCV001951174
- ClinVar RCV003336478
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.266
- AlphaMissense 0.18
- MetaLR 0.12
- MetaSVM -1.02
- CADD 25.70
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)