K22Q (p.Lys22Gln) variant of MSH6 (DNA mismatch repair protein Msh6)
K22Q (p.Lys22Gln) 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; Hereditary nonpolyposis colorectal neop. The record also includes population frequency data, published literature, and structural context.
K22Q (p.Lys22Gln) variant details
- p.Lys22Gln
- rs1060502897
- ClinGen CA346734574
- ClinVar RCV002008711
- ClinVar RCV005674906
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- 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)