E45G (p.Glu45Gly) variant of BRIP1 (Fanconi anemia group J protein)
E45G (p.Glu45Gly) 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 population frequency data, published literature, and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- rs2078950725
- ClinGen CA400485796
- ClinVar RCV001300803
- gnomAD rs2078950725
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.98
- MetaLR 0.42
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)