F10I (p.Phe10Ile) variant of MSH6 (DNA mismatch repair protein Msh6)
F10I (p.Phe10Ile) 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 nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The record also includes published literature and structural context.
F10I (p.Phe10Ile) variant details
- p.Phe10Ile
- rs773861137
- ClinGen CA346734512
- ClinVar RCV003278515
- ClinVar RCV006613007
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- 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)