gnomad-lof-json
"gnomAD":{
"pLi":1.00e0,
"pNull":8.94e-40,
"pRec":1.84e-16,
"synZ":-8.44e-2,
"misZ":5.96e-1,
"loeuf":1.13e0
}
Field | Type | Notes |
---|---|---|
pLi | float | probability of being intolerant of a single loss-of-function variant (like haploinsufficient genes, observed ~ 0.1*expected) |
pNull | float | probability of being completely tolerant of loss of function variation (observed = expected) |
pRec | float | probability of being intolerant of two loss of function variants (like recessive genes, observed ~ 0.5*expected) |
synZ | float | corrected synonymous Z score |
misZ | float | corrected missense Z score |
loeuf | float | loss of function observed/expected upper bound fraction (LOEUF) |