CYP2S1 — 87 ClinVar variants
All ClinVar germline CYP2S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
2 Benign · 8 Likely benign · 77 Uncertain significance
Full CYP2S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2S1 p.Arg143Gln Uncertain significance Multiple submitters
- CYP2S1 p.Ala246Val Uncertain significance Single submitter
- CYP2S1 p.Ala261Val Uncertain significance Single submitter
- CYP2S1 p.Ala265Thr Uncertain significance Single submitter
- CYP2S1 p.Ala338Thr Uncertain significance Single submitter
- CYP2S1 p.Ala3Val Uncertain significance Single submitter
- CYP2S1 p.Ala448Val Uncertain significance Single submitter
- CYP2S1 p.Ala8Val Uncertain significance Single submitter
- CYP2S1 p.Arg154Trp Uncertain significance Single submitter
- CYP2S1 p.Arg166Cys Uncertain significance Single submitter
- CYP2S1 p.Arg266Cys Uncertain significance Single submitter
- CYP2S1 p.Arg266His Uncertain significance Single submitter
- CYP2S1 p.Arg349His Uncertain significance Single submitter
- CYP2S1 p.Arg362Gln Uncertain significance Single submitter
- CYP2S1 p.Arg377Gln Uncertain significance Single submitter
- CYP2S1 p.Arg416His Uncertain significance Single submitter
- CYP2S1 p.Arg438Cys Uncertain significance Single submitter
- CYP2S1 p.Arg493Cys Uncertain significance Single submitter
- CYP2S1 p.Arg493His Uncertain significance Single submitter
- CYP2S1 p.Arg493Leu Uncertain significance Single submitter
- CYP2S1 p.Arg76Gln Uncertain significance Single submitter
- CYP2S1 p.Asn258Thr Uncertain significance Single submitter
- CYP2S1 p.Asp137Asn Uncertain significance Single submitter
- CYP2S1 p.Cys467Arg Uncertain significance Single submitter
- CYP2S1 p.Gln489His Uncertain significance Single submitter
- CYP2S1 p.Gln94Arg Uncertain significance Single submitter
- CYP2S1 p.Glu144Gln Uncertain significance Single submitter
- CYP2S1 p.Glu330Gln Uncertain significance Single submitter
- CYP2S1 p.Glu464Gly Uncertain significance Single submitter
- CYP2S1 p.Gly100Ser Uncertain significance Single submitter
- CYP2S1 p.Gly207Asp Uncertain significance Single submitter
- CYP2S1 p.Gly30Cys Uncertain significance Single submitter
- CYP2S1 p.Gly312Ser Uncertain significance Single submitter
- CYP2S1 p.Gly5Ser Uncertain significance Single submitter
- CYP2S1 p.Gly65Arg Uncertain significance Single submitter
- CYP2S1 p.His401Arg Uncertain significance Single submitter
- CYP2S1 p.His408Leu Uncertain significance Single submitter
- CYP2S1 p.His408Tyr Uncertain significance Single submitter
- CYP2S1 p.His427Arg Uncertain significance Single submitter
- CYP2S1 p.Leu13Val Uncertain significance Single submitter
- CYP2S1 p.Leu19Met Uncertain significance Single submitter
- CYP2S1 p.Leu237Phe Uncertain significance Single submitter
- CYP2S1 p.Leu316Pro Uncertain significance Single submitter
- CYP2S1 p.Leu435Ser Uncertain significance Single submitter
- CYP2S1 p.Leu46Pro Uncertain significance Single submitter
- CYP2S1 p.Leu57Ile Uncertain significance Single submitter
- CYP2S1 p.Leu57Phe Uncertain significance Single submitter
- CYP2S1 p.Lys326Thr Uncertain significance Single submitter
- CYP2S1 p.Met369Val Uncertain significance Single submitter
- CYP2S1 p.Pro170Ser Uncertain significance Single submitter
- CYP2S1 p.Pro264Thr Uncertain significance Single submitter
- CYP2S1 p.Pro468Leu Uncertain significance Single submitter
- CYP2S1 p.Pro74Ser Uncertain significance Single submitter
- CYP2S1 p.Ser119Pro Uncertain significance Single submitter
- CYP2S1 p.Ser24Phe Uncertain significance Single submitter
- CYP2S1 p.Ser262Trp Uncertain significance Single submitter
- CYP2S1 p.Thr304Met Uncertain significance Single submitter
- CYP2S1 p.Thr503Ser Uncertain significance Single submitter
- CYP2S1 p.Val157Ala Uncertain significance Single submitter
- CYP2S1 p.Val202Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CYP2S1 p.Arg101Gln Uncertain significance Single submitter
- CYP2S1 p.Arg203Trp Uncertain significance Single submitter
- CYP2S1 p.Arg416Cys Uncertain significance Single submitter
- CYP2S1 p.Arg438His Uncertain significance Single submitter
- CYP2S1 p.Arg76Trp Uncertain significance Single submitter
- CYP2S1 p.Asn44Ser Uncertain significance Single submitter
- CYP2S1 p.Asp346Tyr Uncertain significance Single submitter
- CYP2S1 p.Glu146Lys Uncertain significance Single submitter
- CYP2S1 p.Leu259Val Uncertain significance Single submitter
- CYP2S1 p.Pro469Leu Likely benign Single submitter
- CYP2S1 p.Pro66Leu Uncertain significance Single submitter
- CYP2S1 p.Tyr193Cys Uncertain significance Single submitter
- CYP2S1 p.Val252Ala Uncertain significance Single submitter
All CYP2S1 variants
Likely benign 8
- p.Arg250Gln Single submitter
- p.Gly257= Single submitter
- p.Leu60= Single submitter
- p.Met58Leu Single submitter
- p.Pro469= Single submitter
- p.Pro469Leu Single submitter ⚠
- p.Val182Ile Single submitter
- p.Val212Ile Single submitter
Uncertain significance 77
- p.Arg143Gln Multiple submitters ⚠
- p.Ala175Pro Single submitter
- p.Ala246Val Single submitter ⚠
- p.Ala261Val Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala338Thr Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg190Gly Single submitter
- p.Arg203Trp Single submitter ⚠
- p.Arg266Cys Single submitter ⚠
- p.Arg266His Single submitter ⚠
- p.Arg349His Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg377Gln Single submitter ⚠
- p.Arg416Cys Single submitter ⚠
- p.Arg416His Single submitter ⚠
- p.Arg438Cys Single submitter ⚠
- p.Arg438His Single submitter ⚠
- p.Arg493Cys Single submitter ⚠
- p.Arg493His Single submitter ⚠
- p.Arg493Leu Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Asn258Thr Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asp137Asn Single submitter ⚠
- p.Asp346Tyr Single submitter ⚠
- p.Cys467Arg Single submitter ⚠
- p.Gln489His Single submitter ⚠
- p.Gln94Arg Single submitter ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu330Gln Single submitter ⚠
- p.Glu464Gly Single submitter ⚠
- p.Gly100Ser Single submitter ⚠
- p.Gly207Asp Single submitter ⚠
- p.Gly30Cys Single submitter ⚠
- p.Gly312Ser Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.His401Arg Single submitter ⚠
- p.His408Leu Single submitter ⚠
- p.His408Tyr Single submitter ⚠
- p.His427Arg Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu19Met Single submitter ⚠
- p.Leu237Phe Single submitter ⚠
- p.Leu259Val Single submitter ⚠
- p.Leu316Pro Single submitter ⚠
- p.Leu435Ser Single submitter ⚠
- p.Leu46Pro Single submitter ⚠
- p.Leu57Ile Single submitter ⚠
- p.Leu57Phe Single submitter ⚠
- p.Lys326Thr Single submitter ⚠
- p.Met369Val Single submitter ⚠
- p.Pro170Ser Single submitter ⚠
- p.Pro264Thr Single submitter ⚠
- p.Pro468Leu Single submitter ⚠
- p.Pro485Ser Single submitter
- p.Pro66Leu Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Ser119Pro Single submitter ⚠
- p.Ser24Phe Single submitter ⚠
- p.Ser262Trp Single submitter ⚠
- p.Thr304Met Single submitter ⚠
- p.Thr379Pro Single submitter
- p.Thr503Ser Single submitter ⚠
- p.Tyr193Cys Single submitter ⚠
- p.Val157Ala Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val252Ala Single submitter ⚠
- p.Val67Leu Single submitter