E45* (p.Glu45Ter) variant of BRIP1 (Fanconi anemia group J protein)
E45* (p.Glu45Ter) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- rs587781292
- ClinGen CA163617
- ClinVar RCV000128992
- ClinVar RCV000196974
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.99
- MetaLR 0.44
- MetaSVM 0.01
- CADD 37.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)