SAAL1 — 50 ClinVar variants
All ClinVar germline SAAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
5 Likely benign · 45 Uncertain significance
Full SAAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SAAL1 p.Ala252Gly Uncertain significance Single submitter
- SAAL1 p.Ala458Val Uncertain significance Single submitter
- SAAL1 p.Arg244Gln Uncertain significance Single submitter
- SAAL1 p.Asn466Lys Uncertain significance Single submitter
- SAAL1 p.Asp231His Uncertain significance Single submitter
- SAAL1 p.Cys287Tyr Uncertain significance Single submitter
- SAAL1 p.Gln166Arg Uncertain significance Single submitter
- SAAL1 p.Gln166His Uncertain significance Single submitter
- SAAL1 p.Gln178Glu Uncertain significance Single submitter
- SAAL1 p.Gln234Pro Uncertain significance Single submitter
- SAAL1 p.Gln424Arg Uncertain significance Single submitter
- SAAL1 p.Glu371Asp Uncertain significance Single submitter
- SAAL1 p.Glu64Lys Uncertain significance Single submitter
- SAAL1 p.His304Leu Uncertain significance Single submitter
- SAAL1 p.Ile314Leu Uncertain significance Single submitter
- SAAL1 p.Ile333Leu Uncertain significance Single submitter
- SAAL1 p.Ile353Thr Uncertain significance Single submitter
- SAAL1 p.Ile399Val Uncertain significance Single submitter
- SAAL1 p.Ile46Met Uncertain significance Single submitter
- SAAL1 p.Leu153Val Uncertain significance Single submitter
- SAAL1 p.Leu213Met Uncertain significance Single submitter
- SAAL1 p.Leu438Pro Uncertain significance Single submitter
- SAAL1 p.Leu89Val Uncertain significance Single submitter
- SAAL1 p.Lys106Glu Uncertain significance Single submitter
- SAAL1 p.Lys254Arg Uncertain significance Single submitter
- SAAL1 p.Lys394Arg Uncertain significance Single submitter
- SAAL1 p.Phe124Cys Uncertain significance Single submitter
- SAAL1 p.Phe391Cys Uncertain significance Single submitter
- SAAL1 p.Ser237Pro Uncertain significance Single submitter
- SAAL1 p.Ser442Gly Uncertain significance Single submitter
- SAAL1 p.Ser48Arg Uncertain significance Single submitter
- SAAL1 p.Thr195Ala Uncertain significance Single submitter
- SAAL1 p.Trp173Cys Uncertain significance Single submitter
- SAAL1 p.Trp173Gly Uncertain significance Single submitter
- SAAL1 p.Val203Leu Uncertain significance Single submitter
- SAAL1 p.Val322Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- SAAL1 p.Asp66Val Uncertain significance Single submitter
- SAAL1 p.Leu264His Uncertain significance Single submitter
- SAAL1 p.Phe189Ser Uncertain significance Single submitter
- SAAL1 p.Phe467Val Uncertain significance Single submitter
- SAAL1 p.Pro313Arg Uncertain significance Single submitter
- SAAL1 p.Val222Phe Uncertain significance Single submitter
- SAAL1 p.Val246Met Uncertain significance Single submitter
All SAAL1 variants
Likely benign 5
- p.Ala410Val Single submitter
- p.Arg383Lys Single submitter
- p.Arg453His Single submitter
- p.Ile249Val Single submitter
- p.Thr63Met Single submitter
Uncertain significance 45
- p.Ala252Gly Single submitter ⚠
- p.Ala458Val Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Asn466Lys Single submitter ⚠
- p.Asp231His Single submitter ⚠
- p.Asp66Val Single submitter ⚠
- p.Asp84Gly Single submitter
- p.Cys287Tyr Single submitter ⚠
- p.Gln166Arg Single submitter ⚠
- p.Gln166His Single submitter ⚠
- p.Gln178Glu Single submitter ⚠
- p.Gln234Pro Single submitter ⚠
- p.Gln424Arg Single submitter ⚠
- p.Glu371Asp Single submitter ⚠
- p.Glu64Lys Single submitter ⚠
- p.His304Leu Single submitter ⚠
- p.Ile314Leu Single submitter ⚠
- p.Ile333Leu Single submitter ⚠
- p.Ile353Thr Single submitter ⚠
- p.Ile399Val Single submitter ⚠
- p.Ile46Met Single submitter ⚠
- p.Leu153Val Single submitter ⚠
- p.Leu213Met Single submitter ⚠
- p.Leu264His Single submitter ⚠
- p.Leu438Pro Single submitter ⚠
- p.Leu89Val Single submitter ⚠
- p.Lys106Glu Single submitter ⚠
- p.Lys254Arg Single submitter ⚠
- p.Lys394Arg Single submitter ⚠
- p.Phe124Cys Single submitter ⚠
- p.Phe189Ser Single submitter ⚠
- p.Phe391Cys Single submitter ⚠
- p.Phe467Val Single submitter ⚠
- p.Pro313Arg Single submitter ⚠
- p.Ser193Gly Single submitter
- p.Ser237Pro Single submitter ⚠
- p.Ser442Gly Single submitter ⚠
- p.Ser48Arg Single submitter ⚠
- p.Thr195Ala Single submitter ⚠
- p.Trp173Cys Single submitter ⚠
- p.Trp173Gly Single submitter ⚠
- p.Val203Leu Single submitter ⚠
- p.Val222Phe Single submitter ⚠
- p.Val246Met Single submitter ⚠
- p.Val322Leu Single submitter ⚠