E45Q (p.Glu45Gln) variant of BRIP1 (Fanconi anemia group J protein)
E45Q (p.Glu45Gln) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs587781292
- ClinGen CA400485798
- ClinVar RCV001248723
- ExAC rs587781292
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.99
- MetaLR 0.44
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)