Fig. 1: P-LP variant distribution.
From: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
Minor allele counts for variants classified as P or LP from 9,309 individuals in the BSC cohort show that 81% of P-LP variants are singleton mutations. 38% of P-LP variants are not present in gnomAD. 44% of such variants are classified as P (predominantly splice site and nonsense variants), and 56% are classified as LP (predominantly missense variants). P pathogenic, LP likely pathogenic, S Splice site, N nonsense, M missense, ACMG American College of Medical Genetics, GnomAD Genome Aggregation Database.
