F11S (p.Phe11Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
F11S (p.Phe11Ser) in MSH6 (DNA mismatch repair protein Msh6) 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.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- rs2103932194
- ClinGen CA346734521
- ClinVar RCV002454690
- Ensembl rs2103932194
- 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)