Evaluation of Rare MCOLN1 Variants in a Large Cohort of α‐Synucleinopathies

Abstract

Note: Genomic position was based on GRCh37.Variants were classified according to the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) joint consensus guidelines, with P indicating that the variant is pathogenic.Function predictions denote whether the variant is a protein-truncating variant or a missense variant, which is predicted as pathogenic or damaging by at least 5 of 10 in silico prediction tools, with D indicating that the variant is damaging.