CYP4F2 — 101 ClinVar variants
All ClinVar germline CYP4F2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
1 Conflicting · 12 Benign · 20 Likely benign · 68 Uncertain significance
Full CYP4F2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP4F2 p.Ala118Val Uncertain significance Multiple submitters
- CYP4F2 p.Ala140Val Uncertain significance Single submitter
- CYP4F2 p.Ala182Thr Uncertain significance Single submitter
- CYP4F2 p.Ala224Ser Uncertain significance Single submitter
- CYP4F2 p.Ala40Ser Uncertain significance Single submitter
- CYP4F2 p.Ala432Val Uncertain significance Single submitter
- CYP4F2 p.Asp265Asn Uncertain significance Single submitter
- CYP4F2 p.Asp265Gly Uncertain significance Single submitter
- CYP4F2 p.Asp331Asn Uncertain significance Single submitter
- CYP4F2 p.Cys45Tyr Uncertain significance Single submitter
- CYP4F2 p.Glu316Lys Uncertain significance Single submitter
- CYP4F2 p.Gly282Val Uncertain significance Single submitter
- CYP4F2 p.Gly417Val Uncertain significance Single submitter
- CYP4F2 p.Gly464Arg Uncertain significance Single submitter
- CYP4F2 p.His33Gln Uncertain significance Single submitter
- CYP4F2 p.Lys290Gln Uncertain significance Single submitter
- CYP4F2 p.Lys306Gln Uncertain significance Single submitter
- CYP4F2 p.Lys479Thr Uncertain significance Single submitter
- CYP4F2 p.Lys501Arg Uncertain significance Single submitter
- CYP4F2 p.Met174Leu Uncertain significance Single submitter
- CYP4F2 p.Met92Val Uncertain significance Single submitter
- CYP4F2 p.Phe325Tyr Uncertain significance Single submitter
- CYP4F2 p.Ser212Arg Uncertain significance Single submitter
- CYP4F2 p.Ser423Asn Uncertain significance Single submitter
- CYP4F2 p.Thr277Ala Uncertain significance Single submitter
- CYP4F2 p.Thr324Ile Uncertain significance Single submitter
- CYP4F2 p.Thr496Ala Uncertain significance Single submitter
- CYP4F2 p.Trp131Leu Uncertain significance Single submitter
- CYP4F2 p.Trp339Arg Uncertain significance Single submitter
- CYP4F2 p.Trp372Cys Uncertain significance Single submitter
- CYP4F2 p.Trp513Arg Uncertain significance Single submitter
- CYP4F2 p.Val402Asp Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- CYP4F2 p.Leu341Val Benign Multiple submitters
- CYP4F2 p.Ala154Val Uncertain significance Single submitter
- CYP4F2 p.Arg146Cys Uncertain significance Single submitter
- CYP4F2 p.Arg149Trp Uncertain significance Single submitter
- CYP4F2 p.Arg255Cys Uncertain significance Single submitter
- CYP4F2 p.Arg261Cys Uncertain significance Single submitter
- CYP4F2 p.Arg319Ile Uncertain significance Single submitter
- CYP4F2 p.Arg365Cys Uncertain significance Single submitter
- CYP4F2 p.Arg46Cys Uncertain significance Single submitter
- CYP4F2 p.Arg490His Uncertain significance Single submitter
- CYP4F2 p.Arg57Gln Uncertain significance Single submitter
- CYP4F2 p.Asp105Tyr Uncertain significance Single submitter
- CYP4F2 p.Asp121Glu Uncertain significance Single submitter
- CYP4F2 p.Asp244His Uncertain significance Single submitter
- CYP4F2 p.Asp374Asn Uncertain significance Single submitter
- CYP4F2 p.Glu238Gly Uncertain significance Single submitter
- CYP4F2 p.Glu352Lys Uncertain significance Single submitter
- CYP4F2 p.Glu448Lys Uncertain significance Single submitter
- CYP4F2 p.Glu497Lys Uncertain significance Single submitter
- CYP4F2 p.Gly511Arg Uncertain significance Single submitter
- CYP4F2 p.His242Arg Uncertain significance Single submitter
- CYP4F2 p.Ile222Phe Uncertain significance Single submitter
- CYP4F2 p.Ile299Thr Uncertain significance Single submitter
- CYP4F2 p.Leu231Val Uncertain significance Single submitter
- CYP4F2 p.Leu24Met Uncertain significance Single submitter
- CYP4F2 p.Leu378Phe Uncertain significance Single submitter
- CYP4F2 p.Lys120Asn Uncertain significance Single submitter
- CYP4F2 p.Lys89Glu Uncertain significance Single submitter
- CYP4F2 p.Met164Lys Uncertain significance Single submitter
- CYP4F2 p.Met478Ile Uncertain significance Single submitter
- CYP4F2 p.Met478Val Uncertain significance Single submitter
- CYP4F2 p.Pro153Thr Uncertain significance Single submitter
- CYP4F2 p.Pro55Leu Uncertain significance Single submitter
- CYP4F2 p.Ser280Asn Uncertain significance Single submitter
- CYP4F2 p.Thr333Met Uncertain significance Single submitter
- CYP4F2 p.Trp19Ser Uncertain significance Single submitter
- CYP4F2 p.Val358Met Uncertain significance Single submitter
-
CYP4F2 p.Ala16Pro
Benign
No assertion criteria
CYP4F2-related disorder
-
CYP4F2 p.Gly185Val
Benign
No assertion criteria
CYP4F2-related disorder
-
CYP4F2 p.Leu519Met
Likely benign
No assertion criteria
CYP4F2-related disorder
All CYP4F2 variants
Conflicting classifications of pathogenicity 1
- c.648-7C>A Single submitter
Benign 12
- c.1115+10G>A Multiple submitters
- p.Ala116= Multiple submitters
- p.Leu341Val Multiple submitters ⚠
- p.Leu375= Single submitter
- c.1398-4C>G No assertion criteria CYP4F2-related disorder
- p.Ala16Pro No assertion criteria CYP4F2-related disorder ⚠
- p.Ala82= No assertion criteria CYP4F2-related disorder
- p.Asn112= No assertion criteria CYP4F2-related disorder
- p.Gly185Val No assertion criteria CYP4F2-related disorder ⚠
- p.Gly93= No assertion criteria CYP4F2-related disorder
- p.His343= No assertion criteria CYP4F2-related disorder
- p.Pro55= No assertion criteria CYP4F2-related disorder
Likely benign 20
- p.Asp309= Single submitter
- p.Glu129Lys Single submitter
- p.His377Gln Single submitter
- p.His401Arg Single submitter
- p.Thr277= Single submitter
- p.Thr333= Single submitter
- c.343+6A>G No assertion criteria CYP4F2-related disorder
- c.919-9T>G No assertion criteria CYP4F2-related disorder
- c.*8A>G No assertion criteria CYP4F2-related disorder
- p.Arg275= No assertion criteria CYP4F2-related disorder
- p.Arg490= No assertion criteria CYP4F2-related disorder
- p.Arg515= No assertion criteria CYP4F2-related disorder
- p.Asp364= No assertion criteria CYP4F2-related disorder
- p.His264= No assertion criteria CYP4F2-related disorder
- p.His33= No assertion criteria CYP4F2-related disorder
- p.Ile414= No assertion criteria CYP4F2-related disorder
- p.Leu519Met No assertion criteria CYP4F2-related disorder ⚠
- p.Leu80= No assertion criteria CYP4F2-related disorder
- p.Thr472Ala No assertion criteria CYP4F2-related disorder
- p.Val481= No assertion criteria CYP4F2-related disorder
Uncertain significance 68
- p.Ala118Val Multiple submitters ⚠
- p.Ala140Val Single submitter ⚠
- p.Ala154Val Single submitter ⚠
- p.Ala182Thr Single submitter ⚠
- p.Ala224Ser Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala432Val Single submitter ⚠
- p.Arg146Cys Single submitter ⚠
- p.Arg149Trp Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg261Cys Single submitter ⚠
- p.Arg319Ile Single submitter ⚠
- p.Arg365Cys Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg490His Single submitter ⚠
- p.Arg57Gln Single submitter ⚠
- p.Asp105Tyr Single submitter ⚠
- p.Asp121Glu Single submitter ⚠
- p.Asp244His Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Asp265Gly Single submitter ⚠
- p.Asp331Asn Single submitter ⚠
- p.Asp374Asn Single submitter ⚠
- p.Cys45Tyr Single submitter ⚠
- p.Glu238Gly Single submitter ⚠
- p.Glu316Lys Single submitter ⚠
- p.Glu352Lys Single submitter ⚠
- p.Glu448Lys Single submitter ⚠
- p.Glu497Lys Single submitter ⚠
- p.Gly282Val Single submitter ⚠
- p.Gly417Val Single submitter ⚠
- p.Gly464Arg Single submitter ⚠
- p.Gly511Arg Single submitter ⚠
- p.His242Arg Single submitter ⚠
- p.His33Gln Single submitter ⚠
- p.Ile222Phe Single submitter ⚠
- p.Ile299Thr Single submitter ⚠
- p.Leu231Val Single submitter ⚠
- p.Leu24Met Single submitter ⚠
- p.Leu378Phe Single submitter ⚠
- p.Lys120Asn Single submitter ⚠
- p.Lys290Gln Single submitter ⚠
- p.Lys306Gln Single submitter ⚠
- p.Lys479Thr Single submitter ⚠
- p.Lys501Arg Single submitter ⚠
- p.Lys89Glu Single submitter ⚠
- p.Met164Lys Single submitter ⚠
- p.Met174Leu Single submitter ⚠
- p.Met478Ile Single submitter ⚠
- p.Met478Val Single submitter ⚠
- p.Met92Val Single submitter ⚠
- p.Phe325Tyr Single submitter ⚠
- p.Pro153Thr Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Ser212Arg Single submitter ⚠
- p.Ser280Asn Single submitter ⚠
- p.Ser423Asn Single submitter ⚠
- p.Thr277Ala Single submitter ⚠
- p.Thr324Ile Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr496Ala Single submitter ⚠
- p.Trp131Leu Single submitter ⚠
- p.Trp19Ser Single submitter ⚠
- p.Trp339Arg Single submitter ⚠
- p.Trp372Cys Single submitter ⚠
- p.Trp513Arg Single submitter ⚠
- p.Val358Met Single submitter ⚠
- p.Val402Asp Single submitter ⚠