E15K (p.Glu15Lys) variant of RAD51D (O75771)
E15K (p.Glu15Lys) 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. The record also includes population frequency data, published literature, and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs775510420
- ClinGen CA8499702
- ClinVar RCV001022428
- ExAC rs775510420
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)