This variant was seen homozygously in two of three individuals studied with cortisone reductase deficiency; it was homozygous wildtype in the remaining individual. Case var/var: 2, case var/wt: 0, case wt/wt: 1. 100 Scottish controls: var/var: 3, var/wt: 34, wt/wt: 63. Also, 49 Indo-Asian controls: var/var: 2, var/wt: 17, wt/wt: 30.
Combined controls: var/var: 5, var/wt: 51, wt/wt: 93. Looking at allele frequencies, this has a p-value of p=0.02. A recessive hypothesis gives it p=0.005. The authors report p=0.0008.
The authors report that expressed mutant cDNA had less than 50% enzyme activity.