K6R (p.Lys6Arg) variant of RAD50 (DNA repair protein RAD50)
K6R (p.Lys6Arg) in RAD50 (DNA repair protein RAD50) 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 published literature and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs2479573805
- ClinGen CA360950790
- ClinVar RCV002962528
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)