Across studies, GBA variant severity was generally classified using a pragmatic framework based on the Gaucher disease phenotype and residual glucocerebrosidase activity, with variants grouped as severe (e.g., p.L444P), mild (e.g., p.N370S), or risk variants (e.g., p.E326K, p.T369M) [3,5,7]. This evidence concerns the gene GBA1 and Gaucher disease.