K28N (p.Lys28Asn) variant of MRE11 (P49959)
K28N (p.Lys28Asn) in MRE11 (P49959) 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.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- rs2496653260
- ClinGen CA382380815
- ClinVar RCV004521559
- 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)