AK3 — 43 ClinVar variants
All ClinVar germline AK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
43 Uncertain significance
Full AK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AK3 p.Ala223Ser Uncertain significance Single submitter
- AK3 p.Ala223Val Uncertain significance Single submitter
- AK3 p.Ala5Ser Uncertain significance Single submitter
- AK3 p.Ala75Thr Uncertain significance Single submitter
- AK3 p.Arg124Cys Uncertain significance Single submitter
- AK3 p.Arg128Gly Uncertain significance Single submitter
- AK3 p.Arg136Gln Uncertain significance Single submitter
- AK3 p.Arg161His Uncertain significance Single submitter
- AK3 p.Arg161Leu Uncertain significance Single submitter
- AK3 p.Arg219Gly Uncertain significance Single submitter
- AK3 p.Asn143Lys Uncertain significance Single submitter
- AK3 p.Asp178His Uncertain significance Single submitter
- AK3 p.Asp68Val Uncertain significance Single submitter
- AK3 p.Gln123Arg Uncertain significance Single submitter
- AK3 p.Gln188His Uncertain significance Single submitter
- AK3 p.Gln221Lys Uncertain significance Single submitter
- AK3 p.Gln84Arg Uncertain significance Single submitter
- AK3 p.Gln98Lys Uncertain significance Single submitter
- AK3 p.His131Pro Uncertain significance Single submitter
- AK3 p.His35Tyr Uncertain significance Single submitter
- AK3 p.Ile159Thr Uncertain significance Single submitter
- AK3 p.Leu184Met Uncertain significance Single submitter
- AK3 p.Leu36Pro Uncertain significance Single submitter
- AK3 p.Lys122Arg Uncertain significance Single submitter
- AK3 p.Lys171Gln Uncertain significance Single submitter
- AK3 p.Lys189Asn Uncertain significance Single submitter
- AK3 p.Pro144Ser Uncertain significance Single submitter
- AK3 p.Pro206Arg Uncertain significance Single submitter
- AK3 p.Pro67Leu Uncertain significance Single submitter
- AK3 p.Thr147Ser Uncertain significance Single submitter
- AK3 p.Thr214Ala Uncertain significance Single submitter
- AK3 p.Thr22Ala Uncertain significance Single submitter
- AK3 p.Thr50Ile Uncertain significance Single submitter
- AK3 p.Trp87Cys Uncertain significance Single submitter
- AK3 p.Val111Met Uncertain significance Single submitter
- AK3 p.Val120Ile Uncertain significance Single submitter
- AK3 p.Val70Gly Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All AK3 variants
Uncertain significance 43
- p.Ala223Ser Single submitter ⚠
- p.Ala223Val Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg128Gly Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg161Leu Single submitter ⚠
- p.Arg219Gly Single submitter ⚠
- p.Arg73Trp Single submitter ⚠
- p.Asn143Lys Single submitter ⚠
- p.Asp178His Single submitter ⚠
- p.Asp68Val Single submitter ⚠
- p.Gln123Arg Single submitter ⚠
- p.Gln179Arg Single submitter ⚠
- p.Gln188His Single submitter ⚠
- p.Gln221Lys Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Gln98Lys Single submitter ⚠
- p.His131Pro Single submitter ⚠
- p.His35Tyr Single submitter ⚠
- p.Ile159Thr Single submitter ⚠
- p.Leu184Met Single submitter ⚠
- p.Leu36Pro Single submitter ⚠
- p.Leu96Phe Single submitter ⚠
- p.Lys122Arg Single submitter ⚠
- p.Lys171Gln Single submitter ⚠
- p.Lys189Asn Single submitter ⚠
- p.Phe142Leu Single submitter ⚠
- p.Pro144Ser Single submitter ⚠
- p.Pro166Ser Single submitter
- p.Pro206Arg Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Thr147Ser Single submitter ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr214Ala Single submitter ⚠
- p.Thr22Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Trp87Cys Single submitter ⚠
- p.Val111Met Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val70Gly Single submitter ⚠