R3Q (p.Arg3Gln) variant of MSH6 (DNA mismatch repair protein Msh6)
R3Q (p.Arg3Gln) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs1553408078
- ClinGen CA346734471
- ClinVar RCV001069282
- ClinVar RCV001178616
- Uncertain significance
- Missense
- 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)