AK4 — 25 ClinVar variants
All ClinVar germline AK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Likely benign · 24 Uncertain significance
Full AK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AK4 p.Ala166Gly Uncertain significance Single submitter
- AK4 p.Ala169Thr Uncertain significance Single submitter
- AK4 p.Ala26Ser Uncertain significance Single submitter
- AK4 p.Arg125Cys Uncertain significance Single submitter
- AK4 p.Arg24Lys Uncertain significance Single submitter
- AK4 p.Arg71His Uncertain significance Single submitter
- AK4 p.Arg7Cys Uncertain significance Single submitter
- AK4 p.Arg81His Uncertain significance Single submitter
- AK4 p.Gln56Arg Uncertain significance Single submitter
- AK4 p.Glu42Asp Uncertain significance Single submitter
- AK4 p.Gly17Asp Uncertain significance Single submitter
- AK4 p.Ile103Met Uncertain significance Single submitter
- AK4 p.Ile182Val Uncertain significance Single submitter
- AK4 p.Leu94Val Uncertain significance Single submitter
- AK4 p.Lys213Arg Uncertain significance Single submitter
- AK4 p.Met73Val Uncertain significance Single submitter
- AK4 p.Ser47Arg Uncertain significance Single submitter
- AK4 p.Thr197Met Uncertain significance Single submitter
- AK4 p.Thr48Ser Uncertain significance Single submitter
- AK4 p.Tyr223Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All AK4 variants
Likely benign 1
- p.Val151Ile Single submitter
Uncertain significance 24
- p.Ala166Gly Single submitter ⚠
- p.Ala169Thr Single submitter ⚠
- p.Ala26Ser Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg24Lys Single submitter ⚠
- p.Arg71His Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg81His Single submitter ⚠
- p.Gln56Arg Single submitter ⚠
- p.Glu42Asp Single submitter ⚠
- p.Gly17Asp Single submitter ⚠
- p.Ile103Met Single submitter ⚠
- p.Ile182Val Single submitter ⚠
- p.Leu94Val Single submitter ⚠
- p.Lys213Arg Single submitter ⚠
- p.Lys213Asn Single submitter ⚠
- p.Lys55Asn Single submitter
- p.Met73Val Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Ser47Arg Single submitter ⚠
- p.Thr197Met Single submitter ⚠
- p.Thr48Ser Single submitter ⚠
- p.Tyr223Cys Single submitter ⚠