Constraint metric

[Kaitlin_Samocha]

Hi Mari Ann,

Please see this response:

Number of expected and observed pLoF variants for CYP8B1 looks unusual

We may observe 74 pLoF variants in the database across all transcripts and variant types in this gene, but the constraint table only displays pLoF variants that meet the following criteria: single nucleotide variants in the MANE Select transcript with MAF < 0.1% that are considered high confidence by LOFTEE in the exome sequenced samples For this particular gene, if you go to the page for the MANE select transcript (gnomAD), you will see 66 pLoF variants listed. Of those, only 5 are considere…