G12E (p.Gly12Glu) variant of BRIP1 (Fanconi anemia group J protein)
G12E (p.Gly12Glu) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs1555618733
- ClinGen CA400486027
- ClinVar RCV000568790
- Ensembl rs1555618733
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.89
- MetaLR 0.69
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)