L19F (p.Leu19Phe) variant of RAD51D (O75771)
L19F (p.Leu19Phe) 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.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs2091797904
- ClinGen CA399092384
- ClinVar RCV001184879
- ClinVar RCV002559877
- 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)