CYP46A1 — 35 ClinVar variants
All ClinVar germline CYP46A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
3 Likely benign · 32 Uncertain significance
Full CYP46A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP46A1 p.Ala273Val Uncertain significance Single submitter
- CYP46A1 p.Arg320His Uncertain significance Single submitter
- CYP46A1 p.Arg435Cys Uncertain significance Single submitter
- CYP46A1 p.Arg461Gln Uncertain significance Single submitter
- CYP46A1 p.Arg467Ser Uncertain significance Single submitter
- CYP46A1 p.Arg489Cys Uncertain significance Single submitter
- CYP46A1 p.Gln441Arg Uncertain significance Single submitter
- CYP46A1 p.Glu132Asp Uncertain significance Single submitter
- CYP46A1 p.Ile86Val Uncertain significance Single submitter
- CYP46A1 p.Leu14Val Uncertain significance Single submitter
- CYP46A1 p.Met445Thr Uncertain significance Single submitter
- CYP46A1 p.Met445Val Uncertain significance Single submitter
- CYP46A1 p.Pro498Thr Uncertain significance Single submitter
- CYP46A1 p.Val258Ile Uncertain significance Single submitter
- CYP46A1 p.Val77Phe Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CYP46A1 p.Arg241Gln Uncertain significance Single submitter
- CYP46A1 p.Arg260Cys Uncertain significance Single submitter
- CYP46A1 p.Arg262Gln Uncertain significance Single submitter
- CYP46A1 p.Arg461Trp Uncertain significance Single submitter
- CYP46A1 p.Arg467Cys Uncertain significance Single submitter
- CYP46A1 p.Arg487Gln Likely benign Single submitter
- CYP46A1 p.Asp289Glu Uncertain significance Single submitter
- CYP46A1 p.Glu345Lys Uncertain significance Single submitter
- CYP46A1 p.Gly206Ser Uncertain significance Single submitter
- CYP46A1 p.Gly490Ser Uncertain significance Single submitter
- CYP46A1 p.Leu204Val Uncertain significance Single submitter
- CYP46A1 p.Phe16Leu Uncertain significance Single submitter
- CYP46A1 p.Pro481His Uncertain significance Single submitter
- CYP46A1 p.Pro488Leu Uncertain significance Single submitter
- CYP46A1 p.Pro495Thr Uncertain significance Single submitter
- CYP46A1 p.Pro496Leu Uncertain significance Single submitter
- CYP46A1 p.Thr156Ala Uncertain significance Single submitter
- CYP46A1 p.Val271Ile Uncertain significance Single submitter
All CYP46A1 variants
Likely benign 3
- p.Ala494Thr Single submitter
- p.Arg487Gln Single submitter ⚠
- p.Ile141Met Single submitter
Uncertain significance 32
- p.Ala273Val Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg262Gln Single submitter ⚠
- p.Arg320His Single submitter ⚠
- p.Arg435Cys Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Arg461Trp Single submitter ⚠
- p.Arg467Cys Single submitter ⚠
- p.Arg467Ser Single submitter ⚠
- p.Arg489Cys Single submitter ⚠
- p.Asp289Glu Single submitter ⚠
- p.Gln441Arg Single submitter ⚠
- p.Glu132Asp Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Gly206Ser Single submitter ⚠
- p.Gly490Ser Single submitter ⚠
- p.Ile86Val Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu204Val Single submitter ⚠
- p.Met445Thr Single submitter ⚠
- p.Met445Val Single submitter ⚠
- p.Phe16Leu Single submitter ⚠
- p.Pro481His Single submitter ⚠
- p.Pro488Leu Single submitter ⚠
- p.Pro495Thr Single submitter ⚠
- p.Pro496Leu Single submitter ⚠
- p.Pro498Thr Single submitter ⚠
- p.Thr156Ala Single submitter ⚠
- p.Val258Ile Single submitter ⚠
- p.Val271Ile Single submitter ⚠
- p.Val77Phe Single submitter ⚠