E37K (p.Glu37Lys) variant of RAD51D (O75771)
E37K (p.Glu37Lys) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The record also includes published literature and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs876659848
- ClinGen CA399091923
- ClinVar RCV001934978
- ClinVar RCV002449496
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- 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)