Sugi Variant

Sugi Variant/FAAH

FAAH — 83 ClinVar variants

All ClinVar germline FAAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

1 Likely pathogenic · 12 Benign · 1 Benign/Likely benign · 11 Likely benign · 58 Uncertain significance

Full FAAH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 54

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 38

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 16

The independent predictors disagree with each other — read with care.

All FAAH variants

Likely pathogenic 1

  • p.His184fs Single submitter polysubstance abuse, susceptibility to

Benign 12

Benign/Likely benign 1

  • p.Pro129Thr Multiple submitters polysubstance abuse, susceptibility to ⚠

Likely benign 11

Uncertain significance 58