D19F (p.Asp19Phe) variant of MSH6 (DNA mismatch repair protein Msh6)
D19F (p.Asp19Phe) 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.
D19F (p.Asp19Phe) variant details
- p.Asp19Phe
- rs1572697844
- ClinGen CA915943787
- ClinVar RCV001024194
- ClinVar RCV001349942
- 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)