CYP39A1 — 62 ClinVar variants
All ClinVar germline CYP39A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
10 Likely benign · 52 Uncertain significance
Full CYP39A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP39A1 p.Ala278Val Uncertain significance Single submitter
- CYP39A1 p.Ala282Val Uncertain significance Single submitter
- CYP39A1 p.Ala310Thr Uncertain significance Single submitter
- CYP39A1 p.Asn110Asp Uncertain significance Single submitter
- CYP39A1 p.Asn277Lys Uncertain significance Single submitter
- CYP39A1 p.Cys210Ser Uncertain significance Single submitter
- CYP39A1 p.Cys414Arg Uncertain significance Single submitter
- CYP39A1 p.Gln134Arg Uncertain significance Single submitter
- CYP39A1 p.Gln467Lys Uncertain significance Single submitter
- CYP39A1 p.Gly204Arg Uncertain significance Single submitter
- CYP39A1 p.Gly453Asp Uncertain significance Single submitter
- CYP39A1 p.Ile187Val Uncertain significance Single submitter
- CYP39A1 p.Ile315Val Uncertain significance Single submitter
- CYP39A1 p.Ile53Met Uncertain significance Single submitter
- CYP39A1 p.Leu113Ser Uncertain significance Single submitter
- CYP39A1 p.Leu269Ser Uncertain significance Single submitter
- CYP39A1 p.Lys186Asn Uncertain significance Single submitter
- CYP39A1 p.Lys237Arg Uncertain significance Single submitter
- CYP39A1 p.Met122Thr Uncertain significance Single submitter
- CYP39A1 p.Met173Val Uncertain significance Single submitter
- CYP39A1 p.Met244Val Uncertain significance Single submitter
- CYP39A1 p.Phe175Val Uncertain significance Single submitter
- CYP39A1 p.Phe307Ser Uncertain significance Single submitter
- CYP39A1 p.Phe43Leu Uncertain significance Single submitter
- CYP39A1 p.Pro49Leu Uncertain significance Single submitter
- CYP39A1 p.Ser304Thr Uncertain significance Single submitter
- CYP39A1 p.Tyr60His Uncertain significance Single submitter
- CYP39A1 p.Val352Leu Uncertain significance Single submitter
- CYP39A1 p.Val454Ile Uncertain significance Single submitter
- CYP39A1 p.Val91Ile Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CYP39A1 p.Arg27Cys Uncertain significance Single submitter
- CYP39A1 p.Asn265Asp Uncertain significance Single submitter
- CYP39A1 p.Gln195Glu Uncertain significance Single submitter
- CYP39A1 p.Glu189Ala Uncertain significance Single submitter
- CYP39A1 p.Glu2Lys Uncertain significance Single submitter
- CYP39A1 p.Glu388Lys Uncertain significance Single submitter
- CYP39A1 p.Gly34Cys Uncertain significance Single submitter
- CYP39A1 p.His292Leu Uncertain significance Single submitter
- CYP39A1 p.Leu174Val Uncertain significance Single submitter
- CYP39A1 p.Leu179Trp Likely benign Single submitter
- CYP39A1 p.Lys228Arg Uncertain significance Single submitter
- CYP39A1 p.Lys47Glu Uncertain significance Single submitter
- CYP39A1 p.Met69Thr Uncertain significance Single submitter
- CYP39A1 p.Phe201Val Uncertain significance Single submitter
- CYP39A1 p.Phe67Leu Uncertain significance Single submitter
- CYP39A1 p.Pro382Ala Uncertain significance Single submitter
- CYP39A1 p.Pro387Thr Uncertain significance Single submitter
- CYP39A1 p.Pro457Ser Uncertain significance Single submitter
- CYP39A1 p.Ser238Cys Likely benign Single submitter
- CYP39A1 p.Ser5Phe Likely benign Single submitter
- CYP39A1 p.Thr285Ile Uncertain significance Single submitter
- CYP39A1 p.Tyr357His Uncertain significance Single submitter
- CYP39A1 p.Val101Phe Uncertain significance Single submitter
- CYP39A1 p.Val279Phe Uncertain significance Single submitter
- CYP39A1 p.Val306Leu Uncertain significance Single submitter
All CYP39A1 variants
Likely benign 10
- p.Ala298Thr Single submitter
- p.Arg23Trp Single submitter
- p.Arg27His Single submitter
- p.Glu209= Single submitter
- p.Ile303Leu Single submitter
- p.Leu179Trp Single submitter ⚠
- p.Ser181Pro Single submitter
- p.Ser238Cys Single submitter ⚠
- p.Ser5Phe Single submitter ⚠
- p.Tyr288= Single submitter
Uncertain significance 52
- p.Ala278Val Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala310Thr Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Asn110Asp Single submitter ⚠
- p.Asn265Asp Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Cys210Ser Single submitter ⚠
- p.Cys414Arg Single submitter ⚠
- p.Gln134Arg Single submitter ⚠
- p.Gln195Glu Single submitter ⚠
- p.Gln467Lys Single submitter ⚠
- p.Glu189Ala Single submitter ⚠
- p.Glu2Lys Single submitter ⚠
- p.Glu388Lys Single submitter ⚠
- p.Gly204Arg Single submitter ⚠
- p.Gly34Cys Single submitter ⚠
- p.Gly453Asp Single submitter ⚠
- p.His292Leu Single submitter ⚠
- p.Ile187Val Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Ile53Met Single submitter ⚠
- p.Leu113Ser Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Leu269Ser Single submitter ⚠
- p.Lys186Asn Single submitter ⚠
- p.Lys228Arg Single submitter ⚠
- p.Lys237Arg Single submitter ⚠
- p.Lys47Glu Single submitter ⚠
- p.Met122Thr Single submitter ⚠
- p.Met173Val Single submitter ⚠
- p.Met244Val Single submitter ⚠
- p.Met69Thr Single submitter ⚠
- p.Phe175Val Single submitter ⚠
- p.Phe201Val Single submitter ⚠
- p.Phe307Ser Single submitter ⚠
- p.Phe43Leu Single submitter ⚠
- p.Phe67Leu Single submitter ⚠
- p.Pro382Ala Single submitter ⚠
- p.Pro387Thr Single submitter ⚠
- p.Pro457Ser Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Ser304Thr Single submitter ⚠
- p.Thr285Ile Single submitter ⚠
- p.Tyr357His Single submitter ⚠
- p.Tyr60His Single submitter ⚠
- p.Val101Phe Single submitter ⚠
- p.Val279Phe Single submitter ⚠
- p.Val306Leu Single submitter ⚠
- p.Val352Leu Single submitter ⚠
- p.Val454Ile Single submitter ⚠
- p.Val91Ile Single submitter ⚠