API5 — 31 ClinVar variants
All ClinVar germline API5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Likely benign · 29 Uncertain significance
Full API5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- API5 p.Asp164Glu Uncertain significance Single submitter
- API5 p.Asp359His Uncertain significance Single submitter
- API5 p.Asp427His Uncertain significance Single submitter
- API5 p.Glu215Gln Uncertain significance Single submitter
- API5 p.Gly463Asp Uncertain significance Single submitter
- API5 p.Leu159Arg Uncertain significance Single submitter
- API5 p.Leu370Arg Uncertain significance Single submitter
- API5 p.Leu370Val Uncertain significance Single submitter
- API5 p.Pro268Arg Uncertain significance Single submitter
- API5 p.Thr438Ala Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- API5 p.Ala402Thr Uncertain significance Single submitter
- API5 p.Arg243Trp Uncertain significance Single submitter
- API5 p.Asn517His Uncertain significance Single submitter
- API5 p.Cys234Tyr Uncertain significance Single submitter
- API5 p.Glu329Asp Uncertain significance Single submitter
- API5 p.Glu458Lys Uncertain significance Single submitter
- API5 p.Gly508Arg Uncertain significance Single submitter
- API5 p.Gly92Arg Uncertain significance Single submitter
- API5 p.His254Asp Uncertain significance Single submitter
- API5 p.Ile197Met Uncertain significance Single submitter
- API5 p.Lys181Arg Uncertain significance Single submitter
- API5 p.Lys196Arg Uncertain significance Single submitter
- API5 p.Met318Val Uncertain significance Single submitter
- API5 p.Ser469Cys Uncertain significance Single submitter
- API5 p.Thr18Met Uncertain significance Single submitter
- API5 p.Thr256Ala Uncertain significance Single submitter
- API5 p.Thr275Ile Uncertain significance Single submitter
- API5 p.Thr460Lys Uncertain significance Single submitter
- API5 p.Val171Ala Uncertain significance Single submitter
All API5 variants
Likely benign 2
- p.Arg504= Single submitter
- p.Gly271Ser Single submitter
Uncertain significance 29
- p.Ala402Thr Single submitter ⚠
- p.Arg243Trp Single submitter ⚠
- p.Asn517His Single submitter ⚠
- p.Asp164Glu Single submitter ⚠
- p.Asp359His Single submitter ⚠
- p.Asp427His Single submitter ⚠
- p.Cys234Tyr Single submitter ⚠
- p.Glu215Gln Single submitter ⚠
- p.Glu329Asp Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Gly463Asp Single submitter ⚠
- p.Gly508Arg Single submitter ⚠
- p.Gly92Arg Single submitter ⚠
- p.His254Asp Single submitter ⚠
- p.Ile197Met Single submitter ⚠
- p.Leu159Arg Single submitter ⚠
- p.Leu370Arg Single submitter ⚠
- p.Leu370Val Single submitter ⚠
- p.Lys181Arg Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Met318Val Single submitter ⚠
- p.Pro268Arg Single submitter ⚠
- p.Ser469Cys Single submitter ⚠
- p.Thr18Met Single submitter ⚠
- p.Thr256Ala Single submitter ⚠
- p.Thr275Ile Single submitter ⚠
- p.Thr438Ala Single submitter ⚠
- p.Thr460Lys Single submitter ⚠
- p.Val171Ala Single submitter ⚠