AKAP4 — 87 ClinVar variants
All ClinVar germline AKAP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
13 Likely benign · 74 Uncertain significance
Full AKAP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP4 p.Arg429His Uncertain significance Multiple submitters
- AKAP4 p.Ala150Gly Uncertain significance Single submitter
- AKAP4 p.Ala449Val Uncertain significance Single submitter
- AKAP4 p.Ala593Val Uncertain significance Single submitter
- AKAP4 p.Ala719Glu Uncertain significance Single submitter
- AKAP4 p.Ala731Pro Uncertain significance Single submitter
- AKAP4 p.Ala809Val Uncertain significance Single submitter
- AKAP4 p.Arg294Ser Uncertain significance Single submitter
- AKAP4 p.Arg39Gln Uncertain significance Single submitter
- AKAP4 p.Arg832Gln Uncertain significance Single submitter
- AKAP4 p.Asn154Ser Uncertain significance Single submitter
- AKAP4 p.Asn184Asp Uncertain significance Single submitter
- AKAP4 p.Asn668Ser Uncertain significance Single submitter
- AKAP4 p.Asn735Thr Uncertain significance Single submitter
- AKAP4 p.Asp684Asn Uncertain significance Single submitter
- AKAP4 p.Asp698Gly Uncertain significance Single submitter
- AKAP4 p.Asp848Asn Uncertain significance Single submitter
- AKAP4 p.Cys386Phe Uncertain significance Single submitter
- AKAP4 p.Gln173Glu Uncertain significance Single submitter
- AKAP4 p.Gln316His Uncertain significance Single submitter
- AKAP4 p.Gln771Pro Uncertain significance Single submitter
- AKAP4 p.Glu280Val Uncertain significance Single submitter
- AKAP4 p.Glu305Lys Uncertain significance Single submitter
- AKAP4 p.Glu674Gly Uncertain significance Single submitter
- AKAP4 p.Glu675Asp Uncertain significance Single submitter
- AKAP4 p.Glu679Ala Uncertain significance Single submitter
- AKAP4 p.Glu76Gly Uncertain significance Single submitter
- AKAP4 p.Glu94Gln Uncertain significance Single submitter
- AKAP4 p.Gly562Val Uncertain significance Single submitter
- AKAP4 p.Gly572Ala Uncertain significance Single submitter
- AKAP4 p.Gly795Arg Uncertain significance Single submitter
- AKAP4 p.His680Arg Uncertain significance Single submitter
- AKAP4 p.Ile165Thr Uncertain significance Single submitter
- AKAP4 p.Ile261Leu Uncertain significance Single submitter
- AKAP4 p.Ile270Thr Uncertain significance Single submitter
- AKAP4 p.Leu123Val Uncertain significance Single submitter
- AKAP4 p.Lys101Arg Uncertain significance Single submitter
- AKAP4 p.Lys183Glu Uncertain significance Single submitter
- AKAP4 p.Lys353Thr Uncertain significance Single submitter
- AKAP4 p.Lys439Asn Uncertain significance Single submitter
- AKAP4 p.Lys586Arg Uncertain significance Single submitter
- AKAP4 p.Lys58Glu Uncertain significance Single submitter
- AKAP4 p.Lys614Arg Uncertain significance Single submitter
- AKAP4 p.Lys623Asn Uncertain significance Single submitter
- AKAP4 p.Lys88Asn Uncertain significance Single submitter
- AKAP4 p.Met344Val Uncertain significance Single submitter
- AKAP4 p.Met423Thr Uncertain significance Single submitter
- AKAP4 p.Met711Val Uncertain significance Single submitter
- AKAP4 p.Met9Thr Uncertain significance Single submitter
- AKAP4 p.Phe643Leu Uncertain significance Single submitter
- AKAP4 p.Pro198Leu Uncertain significance Single submitter
- AKAP4 p.Pro199Ser Uncertain significance Single submitter
- AKAP4 p.Pro253Leu Uncertain significance Single submitter
- AKAP4 p.Ser132Pro Uncertain significance Single submitter
- AKAP4 p.Ser250Pro Uncertain significance Single submitter
- AKAP4 p.Ser268Gly Uncertain significance Single submitter
- AKAP4 p.Ser312Asn Uncertain significance Single submitter
- AKAP4 p.Ser573Phe Uncertain significance Single submitter
- AKAP4 p.Ser581Cys Uncertain significance Single submitter
- AKAP4 p.Ser592Gly Uncertain significance Single submitter
- AKAP4 p.Ser5Thr Uncertain significance Single submitter
- AKAP4 p.Ser603Thr Uncertain significance Single submitter
- AKAP4 p.Ser715Arg Uncertain significance Single submitter
- AKAP4 p.Ser744Ile Uncertain significance Single submitter
- AKAP4 p.Val598Gly Uncertain significance Single submitter
- AKAP4 p.Val630Ile Uncertain significance No assertion criteria
Predictors split 8
The independent predictors disagree with each other — read with care.
- AKAP4 p.Asn389Lys Uncertain significance Single submitter
- AKAP4 p.Ile545Ser Uncertain significance Single submitter
- AKAP4 p.Ile80Asn Uncertain significance Single submitter
- AKAP4 p.Leu633Arg Uncertain significance Single submitter
- AKAP4 p.Phe793Leu Uncertain significance Single submitter
-
AKAP4 p.Val26Ala
Uncertain significance
Single submitter
Reduced sperm motility
- AKAP4 p.Val47Ala Uncertain significance Single submitter
- AKAP4 p.Val47Gly Uncertain significance Single submitter
All AKAP4 variants
Likely benign 13
- p.Ala267Val Single submitter
- p.Ala692Val Single submitter
- p.Arg737Gly Single submitter
- p.Asp36= Single submitter
- p.Gly497Ser Single submitter
- p.Gly745= Single submitter
- p.His618Gln Single submitter
- p.Ile742Ser Single submitter
- p.Phe403= Single submitter
- p.Ser447= Single submitter
- p.Ser73Asn Single submitter
- p.Thr582Ala Single submitter
- p.Val598Met Single submitter
Uncertain significance 74
- p.Arg429His Multiple submitters ⚠
- p.Ala150Gly Single submitter ⚠
- p.Ala449Val Single submitter ⚠
- p.Ala593Val Single submitter ⚠
- p.Ala719Glu Single submitter ⚠
- p.Ala731Pro Single submitter ⚠
- p.Ala809Val Single submitter ⚠
- p.Arg294Ser Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Arg832Gln Single submitter ⚠
- p.Asn154Ser Single submitter ⚠
- p.Asn184Asp Single submitter ⚠
- p.Asn389Lys Single submitter ⚠
- p.Asn668Ser Single submitter ⚠
- p.Asn735Thr Single submitter ⚠
- p.Asp684Asn Single submitter ⚠
- p.Asp698Gly Single submitter ⚠
- p.Asp848Asn Single submitter ⚠
- p.Cys386Phe Single submitter ⚠
- p.Gln173Glu Single submitter ⚠
- p.Gln316His Single submitter ⚠
- p.Gln771Pro Single submitter ⚠
- p.Glu280Val Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu674Gly Single submitter ⚠
- p.Glu675Asp Single submitter ⚠
- p.Glu679Ala Single submitter ⚠
- p.Glu76Gly Single submitter ⚠
- p.Glu94Gln Single submitter ⚠
- p.Gly562Val Single submitter ⚠
- p.Gly572Ala Single submitter ⚠
- p.Gly795Arg Single submitter ⚠
- p.His680Arg Single submitter ⚠
- p.Ile165Thr Single submitter ⚠
- p.Ile261Leu Single submitter ⚠
- p.Ile270Thr Single submitter ⚠
- p.Ile545Ser Single submitter ⚠
- p.Ile80Asn Single submitter ⚠
- p.Leu123Val Single submitter ⚠
- p.Leu633Arg Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Lys183Glu Single submitter ⚠
- p.Lys353Thr Single submitter ⚠
- p.Lys439Asn Single submitter ⚠
- p.Lys586Arg Single submitter ⚠
- p.Lys58Glu Single submitter ⚠
- p.Lys614Arg Single submitter ⚠
- p.Lys623Asn Single submitter ⚠
- p.Lys88Asn Single submitter ⚠
- p.Met344Val Single submitter ⚠
- p.Met423Thr Single submitter ⚠
- p.Met711Val Single submitter ⚠
- p.Met9Thr Single submitter ⚠
- p.Phe643Leu Single submitter ⚠
- p.Phe793Leu Single submitter ⚠
- p.Pro198Leu Single submitter ⚠
- p.Pro199Ser Single submitter ⚠
- p.Pro253Leu Single submitter ⚠
- p.Ser132Pro Single submitter ⚠
- p.Ser250Pro Single submitter ⚠
- p.Ser268Gly Single submitter ⚠
- p.Ser312Asn Single submitter ⚠
- p.Ser573Phe Single submitter ⚠
- p.Ser581Cys Single submitter ⚠
- p.Ser592Gly Single submitter ⚠
- p.Ser5Thr Single submitter ⚠
- p.Ser603Thr Single submitter ⚠
- p.Ser715Arg Single submitter ⚠
- p.Ser744Ile Single submitter ⚠
- p.Val26Ala Single submitter Reduced sperm motility ⚠
- p.Val47Ala Single submitter ⚠
- p.Val47Gly Single submitter ⚠
- p.Val598Gly Single submitter ⚠
- p.Val630Ile No assertion criteria ⚠