P12R (p.Pro12Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
P12R (p.Pro12Arg) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs760603184
- ClinGen CA346734526
- ClinVar RCV001177000
- ClinVar RCV002295330
- Likely benign
- Missense
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)