AQP3 — 25 ClinVar variants
All ClinVar germline AQP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
3 Benign · 2 Likely benign · 20 Uncertain significance
Full AQP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AQP3 p.Ala85Ser Uncertain significance Single submitter
- AQP3 p.Arg188Gln Uncertain significance Single submitter
- AQP3 p.Arg223Cys Uncertain significance Single submitter
- AQP3 p.Arg223His Uncertain significance Single submitter
- AQP3 p.Asn141Ser Uncertain significance Single submitter
- AQP3 p.Gln4Pro Uncertain significance Single submitter
- AQP3 p.Gly12Arg Uncertain significance Single submitter
- AQP3 p.Gly142Asp Uncertain significance Single submitter
- AQP3 p.Gly239Ser Uncertain significance Single submitter
- AQP3 p.Leu21Val Uncertain significance Single submitter
- AQP3 p.Leu224Ile Uncertain significance Single submitter
- AQP3 p.Lys289Arg Uncertain significance Single submitter
- AQP3 p.Phe259Ser Uncertain significance Single submitter
- AQP3 p.Pro151Ala Uncertain significance Single submitter
- AQP3 p.Thr168Ile Uncertain significance Single submitter
- AQP3 p.Val86Met Uncertain significance Single submitter
- AQP3 p.Val8Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All AQP3 variants
Benign 3
Uncertain significance 20
- p.Ala74Thr Single submitter ⚠
- p.Ala85Ser Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg223Cys Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Asn141Ser Single submitter ⚠
- p.Gln4Pro Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly142Asp Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Leu224Ile Single submitter ⚠
- p.Lys289Arg Single submitter ⚠
- p.Phe259Ser Single submitter ⚠
- p.Pro151Ala Single submitter ⚠
- p.Pro187Ser Single submitter
- p.Thr168Ile Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val86Met Single submitter ⚠
- p.Val8Leu Single submitter ⚠