ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease

William T Gibson; Daniel M Evans; Jianghong An; Steven JM Jones

The gnomAD database of human genetic variation catalogues coding variants from 141,456 88 adults without childhood-onset neurodevelopmental syndromes. 20 Though little phenotypic detail is 89 available on participants, this database serves as a convenient reference of "background" human 90 genetic variation. We accessed the ACE2 entry in the gnomAD database (v. The copyright holder for this preprint (which was not peer-reviewed) is the . https://doi.org/10.1101/2020.04.05.026633 doi: bioRxiv preprint global superpopulation (e.g. Africans, South Asians) represented in gnomAD, and for specific 101 subpopulations (e.g. Southern Europeans) where these were available. Among males, the prevalence of 102 a rare X-linked variant is equivalent to the MAF for that allele. For females, the prevalence of a rare X-103 linked variant is equivalent to twice the MAF for that allele, because females have two X chromosomes 104 (and hence, twice the number of X-linked alleles). We retrieved CADD scores from a downloaded 105 version of CADD v1.4; the Phred-scaled CADD score 21 is reported for position and allele combination. 106