Gene Metrics card

Card contents

The Gene Metrics card displays gene metrics from ExAC, gnomAD and ClinGen that assess the potential pathogenic impact of gene alterations:

• RVIS — Residual variation intolerance score
• p(LoF intolerant) — Probability of loss of function intolerance
• p(REC) — Probability of being intolerant to homozygous, but not heterozygous LoF variants
• O/E score — Ratio of the observed/expected number of LoF variants
• HI — Haploinsufficiency
• TS — Triplosensitivity
• Z missense — Intolerance to missense variants based on the deviation of observed missense variants versus the expected number

Gene Metrics card.