A16E (p.Ala16Glu) variant of MSH6 (DNA mismatch repair protein Msh6)
A16E (p.Ala16Glu) 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 nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr. The record also includes published literature and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- rs759501511
- ClinGen CA346734543
- ClinVar RCV001214582
- ClinVar RCV002339560
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- 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)