ATP1B3 — 21 ClinVar variants
All ClinVar germline ATP1B3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Likely benign · 19 Uncertain significance
Full ATP1B3 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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP1B3 p.Ala143Ser Uncertain significance Single submitter
- ATP1B3 p.Arg73His Uncertain significance Single submitter
- ATP1B3 p.Gln75Arg Uncertain significance Single submitter
- ATP1B3 p.Lys266Glu Uncertain significance Single submitter
- ATP1B3 p.Ser78Arg Uncertain significance Single submitter
- ATP1B3 p.Thr242Ser Uncertain significance Single submitter
- ATP1B3 p.Val235Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ATP1B3 p.Ala52Val Uncertain significance Single submitter
- ATP1B3 p.Arg270Gln Uncertain significance Single submitter
- ATP1B3 p.Arg278Cys Uncertain significance Single submitter
- ATP1B3 p.Asn10His Uncertain significance Single submitter
- ATP1B3 p.Asp67Asn Uncertain significance Single submitter
- ATP1B3 p.Glu249Lys Uncertain significance Single submitter
- ATP1B3 p.Gly138Ser Uncertain significance Single submitter
- ATP1B3 p.Lys7Thr Uncertain significance Single submitter
- ATP1B3 p.Pro23Arg Uncertain significance Single submitter
- ATP1B3 p.Ser98Ala Uncertain significance Single submitter
- ATP1B3 p.Thr57Met Uncertain significance Single submitter
- ATP1B3 p.Thr64Ser Uncertain significance Single submitter
All ATP1B3 variants
Likely benign 2
- p.Ala104Glu Single submitter
- p.Ile198Thr Single submitter
Uncertain significance 19
- p.Ala143Ser Single submitter ⚠
- p.Ala52Val Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn10His Single submitter ⚠
- p.Asp67Asn Single submitter ⚠
- p.Gln75Arg Single submitter ⚠
- p.Glu249Lys Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.Lys266Glu Single submitter ⚠
- p.Lys7Thr Single submitter ⚠
- p.Pro23Arg Single submitter ⚠
- p.Ser78Arg Single submitter ⚠
- p.Ser98Ala Single submitter ⚠
- p.Thr242Ser Single submitter ⚠
- p.Thr57Met Single submitter ⚠
- p.Thr64Ser Single submitter ⚠
- p.Val235Ile Single submitter ⚠