AKR1B1 — 22 ClinVar variants
All ClinVar germline AKR1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
4 Benign · 6 Likely benign · 12 Uncertain significance
Full AKR1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 5
The independent predictors disagree with each other — read with care.
All AKR1B1 variants
Benign 4
- c.429+6A>G Multiple submitters
- p.Lys240= Multiple submitters
- p.Ser98= Multiple submitters
- p.Thr141= Multiple submitters
Likely benign 6
- p.Leu213= Multiple submitters
- p.Phe312= Multiple submitters
- p.Leu302Val Single submitter
- p.Ser128= Single submitter
- p.Thr288= Single submitter
- p.Val38Leu Single submitter
Uncertain significance 12
- p.Ala239Val Single submitter ⚠
- p.Glu268Gly Single submitter ⚠
- p.Leu109Val Single submitter
- p.Lys177Glu Single submitter
- p.Lys235Glu Single submitter ⚠
- p.Lys263Glu Single submitter ⚠
- p.Lys62Arg Single submitter ⚠
- p.Pro219Ser Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Ser215Pro Single submitter ⚠
- p.Thr29Ile Single submitter ⚠
- p.Val76Ile Single submitter ⚠