ATP5MGL — 21 ClinVar variants

All ClinVar germline ATP5MGL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →

6 Likely benign · 15 Uncertain significance

Full ATP5MGL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 15

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 11

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 4

The independent predictors disagree with each other — read with care.

All ATP5MGL variants

Likely benign 6

p.Ala29Thr Single submitter
p.Arg48Gly Single submitter
p.Gly100= Single submitter
p.Thr34Ser Single submitter
p.Thr42= Single submitter
p.Thr85Met Single submitter

Uncertain significance 15

p.Ala44Thr Single submitter ⚠
p.Ala73Thr Single submitter ⚠
p.Arg96His Single submitter ⚠
p.Arg96Pro Single submitter ⚠
p.Gly100Ala Single submitter ⚠
p.Leu27Met Single submitter ⚠
p.Leu27Ser Single submitter ⚠
p.Lys55Glu Single submitter ⚠
p.Lys71Glu Single submitter ⚠
p.Pro47Ala Single submitter ⚠
p.Pro47Ser Single submitter ⚠
p.Thr35Ala Single submitter ⚠
p.Tyr32Ser Single submitter ⚠
p.Val57Phe Single submitter ⚠
p.Val70Ile Single submitter ⚠