AFTPH — 133 ClinVar variants
All ClinVar germline AFTPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
6 Likely benign · 127 Uncertain significance
Full AFTPH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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 94
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFTPH p.Ala204Thr Uncertain significance Single submitter
- AFTPH p.Ala20Gly Uncertain significance Single submitter
- AFTPH p.Ala526Gly Uncertain significance Single submitter
- AFTPH p.Ala587Thr Uncertain significance Single submitter
- AFTPH p.Ala658Thr Uncertain significance Single submitter
- AFTPH p.Ala905Thr Uncertain significance Single submitter
- AFTPH p.Arg256Thr Uncertain significance Single submitter
- AFTPH p.Arg388Gly Uncertain significance Single submitter
- AFTPH p.Arg54Ser Uncertain significance Single submitter
- AFTPH p.Arg651His Uncertain significance Single submitter
- AFTPH p.Asn18Ser Uncertain significance Single submitter
- AFTPH p.Asn202Asp Uncertain significance Single submitter
- AFTPH p.Asn220Ser Uncertain significance Single submitter
- AFTPH p.Asn425Ser Uncertain significance Single submitter
- AFTPH p.Asn428Ser Uncertain significance Single submitter
- AFTPH p.Asn544Asp Uncertain significance Single submitter
- AFTPH p.Asp22Glu Uncertain significance Single submitter
- AFTPH p.Asp378Gly Uncertain significance Single submitter
- AFTPH p.Asp407Glu Uncertain significance Single submitter
- AFTPH p.Asp408Asn Uncertain significance Single submitter
- AFTPH p.Asp590Asn Uncertain significance Single submitter
- AFTPH p.Asp613His Uncertain significance Single submitter
- AFTPH p.Asp76Gly Uncertain significance Single submitter
- AFTPH p.Asp835Asn Uncertain significance Single submitter
- AFTPH p.Asp89Val Uncertain significance Single submitter
- AFTPH p.Asp91Asn Uncertain significance Single submitter
- AFTPH p.Asp91Gly Uncertain significance Single submitter
- AFTPH p.Cys171Arg Uncertain significance Single submitter
- AFTPH p.Cys365Tyr Uncertain significance Single submitter
- AFTPH p.Cys369Arg Uncertain significance Single submitter
- AFTPH p.Cys369Tyr Uncertain significance Single submitter
- AFTPH p.Gln103Arg Uncertain significance Single submitter
- AFTPH p.Gln315Arg Uncertain significance Single submitter
- AFTPH p.Gln394His Uncertain significance Single submitter
- AFTPH p.Gln781His Uncertain significance Single submitter
- AFTPH p.Glu174Lys Uncertain significance Single submitter
- AFTPH p.Glu278Asp Uncertain significance Single submitter
- AFTPH p.Glu533Gly Uncertain significance Single submitter
- AFTPH p.Glu535Lys Uncertain significance Single submitter
- AFTPH p.Glu576Gln Uncertain significance Single submitter
- AFTPH p.Glu58Gly Uncertain significance Single submitter
- AFTPH p.Glu799Val Uncertain significance Single submitter
- AFTPH p.Glu894Asp Uncertain significance Single submitter
- AFTPH p.Gly329Val Uncertain significance Single submitter
- AFTPH p.Gly519Arg Uncertain significance Single submitter
- AFTPH p.Gly616Ala Uncertain significance Single submitter
- AFTPH p.His163Leu Uncertain significance Single submitter
- AFTPH p.His621Asp Uncertain significance Single submitter
- AFTPH p.His69Arg Uncertain significance Single submitter
- AFTPH p.Ile181Ser Uncertain significance Single submitter
- AFTPH p.Ile304Val Uncertain significance Single submitter
- AFTPH p.Ile612Thr Uncertain significance Single submitter
- AFTPH p.Ile663Val Uncertain significance Single submitter
- AFTPH p.Ile901Val Uncertain significance Single submitter
- AFTPH p.Leu182Val Uncertain significance Single submitter
- AFTPH p.Leu200Val Uncertain significance Single submitter
- AFTPH p.Leu259Pro Uncertain significance Single submitter
- AFTPH p.Leu281Phe Uncertain significance Single submitter
- AFTPH p.Leu368Val Uncertain significance Single submitter
- AFTPH p.Leu727His Uncertain significance Single submitter
- AFTPH p.Lys277Glu Uncertain significance Single submitter
- AFTPH p.Lys288Arg Uncertain significance Single submitter
- AFTPH p.Lys333Glu Uncertain significance Single submitter
- AFTPH p.Lys374Arg Uncertain significance Single submitter
- AFTPH p.Lys389Arg Uncertain significance Single submitter
- AFTPH p.Lys527Asn Uncertain significance Single submitter
- AFTPH p.Met128Val Uncertain significance Single submitter
- AFTPH p.Met913Thr Uncertain significance Single submitter
- AFTPH p.Pro225His Uncertain significance Single submitter
- AFTPH p.Pro446Leu Uncertain significance Single submitter
- AFTPH p.Pro50Leu Uncertain significance Single submitter
- AFTPH p.Pro543Arg Uncertain significance Single submitter
- AFTPH p.Pro908Arg Uncertain significance Single submitter
- AFTPH p.Ser418Thr Uncertain significance Single submitter
- AFTPH p.Ser563Ala Uncertain significance Single submitter
- AFTPH p.Ser605Leu Uncertain significance Single submitter
- AFTPH p.Ser839Thr Uncertain significance Single submitter
- AFTPH p.Ser842Thr Uncertain significance Single submitter
- AFTPH p.Ser97Pro Uncertain significance Single submitter
- AFTPH p.Thr214Ile Uncertain significance Single submitter
- AFTPH p.Thr236Ala Uncertain significance Single submitter
- AFTPH p.Thr291Ala Uncertain significance Single submitter
- AFTPH p.Thr375Asn Uncertain significance Single submitter
- AFTPH p.Thr445Ala Uncertain significance Single submitter
- AFTPH p.Thr688Arg Uncertain significance Single submitter
- AFTPH p.Thr782Ser Uncertain significance Single submitter
- AFTPH p.Thr791Ile Uncertain significance Single submitter
- AFTPH p.Thr928Ala Uncertain significance Single submitter
- AFTPH p.Tyr9Cys Uncertain significance Single submitter
- AFTPH p.Val162Ile Uncertain significance Single submitter
- AFTPH p.Val37Ala Uncertain significance Single submitter
- AFTPH p.Val449Ala Uncertain significance Single submitter
- AFTPH p.Val632Gly Uncertain significance Single submitter
- AFTPH p.Val880Ala Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- AFTPH p.Arg209Trp Likely benign Single submitter
- AFTPH p.Arg262Trp Uncertain significance Single submitter
- AFTPH p.Arg715Gly Uncertain significance Single submitter
- AFTPH p.Asp25Asn Uncertain significance Single submitter
- AFTPH p.Asp26Ala Uncertain significance Single submitter
- AFTPH p.Asp477Asn Uncertain significance Single submitter
- AFTPH p.Asp571His Uncertain significance Single submitter
- AFTPH p.Asp571Tyr Uncertain significance Single submitter
- AFTPH p.Glu355Lys Uncertain significance Single submitter
- AFTPH p.Glu653Gly Uncertain significance Single submitter
- AFTPH p.Glu653Val Uncertain significance Single submitter
- AFTPH p.Glu774Ala Uncertain significance Single submitter
- AFTPH p.Gly565Cys Uncertain significance Single submitter
- AFTPH p.Ile749Thr Uncertain significance Single submitter
- AFTPH p.Leu200Pro Uncertain significance Single submitter
- AFTPH p.Leu801Pro Uncertain significance Single submitter
- AFTPH p.Lys745Gln Uncertain significance Single submitter
- AFTPH p.Met752Ile Uncertain significance Single submitter
- AFTPH p.Phe478Leu Uncertain significance Single submitter
- AFTPH p.Phe478Ser Uncertain significance Single submitter
- AFTPH p.Pro14Ala Uncertain significance Single submitter
- AFTPH p.Pro846Arg Uncertain significance Single submitter
- AFTPH p.Ser226Asn Uncertain significance Single submitter
- AFTPH p.Ser417Arg Uncertain significance Single submitter
- AFTPH p.Ser674Ala Uncertain significance Single submitter
- AFTPH p.Ser839Phe Uncertain significance Single submitter
- AFTPH p.Ser839Tyr Uncertain significance Single submitter
- AFTPH p.Ser863Phe Uncertain significance Single submitter
- AFTPH p.Ser929Asn Uncertain significance Single submitter
- AFTPH p.Thr620Met Likely benign Single submitter
- AFTPH p.Thr735Ile Uncertain significance Single submitter
- AFTPH p.Thr741Met Uncertain significance Single submitter
- AFTPH p.Thr923Met Uncertain significance Single submitter
- AFTPH p.Val748Phe Uncertain significance Single submitter
- AFTPH p.Val834Met Uncertain significance Single submitter
All AFTPH variants
Likely benign 6
- p.Ala526Ser Single submitter
- p.Arg209Trp Single submitter ⚠
- p.Arg262Gln Single submitter
- p.Thr620Ala Single submitter
- p.Thr620Met Single submitter ⚠
- p.Thr627Ala Single submitter
Uncertain significance 127
- p.Ala204Thr Single submitter ⚠
- p.Ala20Gly Single submitter ⚠
- p.Ala526Gly Single submitter ⚠
- p.Ala587Thr Single submitter ⚠
- p.Ala658Thr Single submitter ⚠
- p.Ala905Thr Single submitter ⚠
- p.Arg256Thr Single submitter ⚠
- p.Arg262Trp Single submitter ⚠
- p.Arg388Gly Single submitter ⚠
- p.Arg54Ser Single submitter ⚠
- p.Arg651His Single submitter ⚠
- p.Arg715Gly Single submitter ⚠
- p.Asn18Ser Single submitter ⚠
- p.Asn202Asp Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asn425Ser Single submitter ⚠
- p.Asn428Ser Single submitter ⚠
- p.Asn544Asp Single submitter ⚠
- p.Asp22Glu Single submitter ⚠
- p.Asp25Asn Single submitter ⚠
- p.Asp26Ala Single submitter ⚠
- p.Asp378Gly Single submitter ⚠
- p.Asp407Glu Single submitter ⚠
- p.Asp408Asn Single submitter ⚠
- p.Asp477Asn Single submitter ⚠
- p.Asp571His Single submitter ⚠
- p.Asp571Tyr Single submitter ⚠
- p.Asp590Asn Single submitter ⚠
- p.Asp613His Single submitter ⚠
- p.Asp76Gly Single submitter ⚠
- p.Asp835Asn Single submitter ⚠
- p.Asp89Val Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Asp91Gly Single submitter ⚠
- p.Cys171Arg Single submitter ⚠
- p.Cys365Tyr Single submitter ⚠
- p.Cys369Arg Single submitter ⚠
- p.Cys369Tyr Single submitter ⚠
- p.Gln103Arg Single submitter ⚠
- p.Gln315Arg Single submitter ⚠
- p.Gln394His Single submitter ⚠
- p.Gln781His Single submitter ⚠
- p.Glu174Lys Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu355Lys Single submitter ⚠
- p.Glu533Gly Single submitter ⚠
- p.Glu535Lys Single submitter ⚠
- p.Glu576Gln Single submitter ⚠
- p.Glu58Gly Single submitter ⚠
- p.Glu653Gly Single submitter ⚠
- p.Glu653Val Single submitter ⚠
- p.Glu774Ala Single submitter ⚠
- p.Glu799Val Single submitter ⚠
- p.Glu894Asp Single submitter ⚠
- p.Gly329Val Single submitter ⚠
- p.Gly519Arg Single submitter ⚠
- p.Gly565Cys Single submitter ⚠
- p.Gly616Ala Single submitter ⚠
- p.His163Leu Single submitter ⚠
- p.His621Asp Single submitter ⚠
- p.His69Arg Single submitter ⚠
- p.Ile181Ser Single submitter ⚠
- p.Ile304Val Single submitter ⚠
- p.Ile612Thr Single submitter ⚠
- p.Ile663Val Single submitter ⚠
- p.Ile749Thr Single submitter ⚠
- p.Ile901Val Single submitter ⚠
- p.Leu182Val Single submitter ⚠
- p.Leu200Pro Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Leu259Pro Single submitter ⚠
- p.Leu281Phe Single submitter ⚠
- p.Leu368Val Single submitter ⚠
- p.Leu727His Single submitter ⚠
- p.Leu801Pro Single submitter ⚠
- p.Lys277Glu Single submitter ⚠
- p.Lys288Arg Single submitter ⚠
- p.Lys333Glu Single submitter ⚠
- p.Lys374Arg Single submitter ⚠
- p.Lys389Arg Single submitter ⚠
- p.Lys527Asn Single submitter ⚠
- p.Lys745Gln Single submitter ⚠
- p.Met128Val Single submitter ⚠
- p.Met752Ile Single submitter ⚠
- p.Met913Thr Single submitter ⚠
- p.Phe478Leu Single submitter ⚠
- p.Phe478Ser Single submitter ⚠
- p.Pro14Ala Single submitter ⚠
- p.Pro225His Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro543Arg Single submitter ⚠
- p.Pro846Arg Single submitter ⚠
- p.Pro908Arg Single submitter ⚠
- p.Ser226Asn Single submitter ⚠
- p.Ser417Arg Single submitter ⚠
- p.Ser418Thr Single submitter ⚠
- p.Ser563Ala Single submitter ⚠
- p.Ser605Leu Single submitter ⚠
- p.Ser674Ala Single submitter ⚠
- p.Ser839Phe Single submitter ⚠
- p.Ser839Thr Single submitter ⚠
- p.Ser839Tyr Single submitter ⚠
- p.Ser842Thr Single submitter ⚠
- p.Ser863Phe Single submitter ⚠
- p.Ser929Asn Single submitter ⚠
- p.Ser97Pro Single submitter ⚠
- p.Thr214Ile Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr291Ala Single submitter ⚠
- p.Thr375Asn Single submitter ⚠
- p.Thr445Ala Single submitter ⚠
- p.Thr688Arg Single submitter ⚠
- p.Thr735Ile Single submitter ⚠
- p.Thr741Met Single submitter ⚠
- p.Thr782Ser Single submitter ⚠
- p.Thr791Ile Single submitter ⚠
- p.Thr923Met Single submitter ⚠
- p.Thr928Ala Single submitter ⚠
- p.Tyr9Cys Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val37Ala Single submitter ⚠
- p.Val449Ala Single submitter ⚠
- p.Val632Gly Single submitter ⚠
- p.Val748Phe Single submitter ⚠
- p.Val834Met Single submitter ⚠
- p.Val880Ala Single submitter ⚠