I27R (p.Ile27Arg) variant of BRCA2 (P51587)
I27R (p.Ile27Arg) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature.
I27R (p.Ile27Arg) variant details
- p.Ile27Arg
- rs2548511097
- ClinGen CA387754059
- ClinVar RCV002419490
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)