E30D (p.Glu30Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
E30D (p.Glu30Asp) 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. The record also includes published literature and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- rs1060504760
- ClinGen CA346734817
- ClinVar RCV003215392
- Ensembl rs1060504760
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)