G35E (p.Gly35Glu) variant of BRIP1 (Fanconi anemia group J protein)
G35E (p.Gly35Glu) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G35E (p.Gly35Glu) variant details
- p.Gly35Glu
- rs876659168
- ClinGen CA400485865
- ClinVar RCV001186692
- gnomAD rs876659168
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.37
- AlphaMissense 0.99
- MetaLR 0.37
- MetaSVM -0.37
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)