ACSL1 — 78 ClinVar variants
All ClinVar germline ACSL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
3 Benign · 10 Likely benign · 65 Uncertain significance
Full ACSL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSL1 p.Ala145Val Uncertain significance Single submitter
- ACSL1 p.Ala257Thr Uncertain significance Single submitter
- ACSL1 p.Ala435Thr Uncertain significance Single submitter
- ACSL1 p.Ala448Val Uncertain significance Single submitter
- ACSL1 p.Arg19Leu Uncertain significance Single submitter
- ACSL1 p.Arg237Gln Uncertain significance Single submitter
- ACSL1 p.Arg23Ser Uncertain significance Single submitter
- ACSL1 p.Arg555Gln Uncertain significance Single submitter
- ACSL1 p.Asn306His Uncertain significance Single submitter
- ACSL1 p.Cys463Tyr Uncertain significance Single submitter
- ACSL1 p.Gln148His Uncertain significance Single submitter
- ACSL1 p.Glu505Lys Uncertain significance Single submitter
- ACSL1 p.Gly34Arg Uncertain significance Single submitter
- ACSL1 p.Gly466Arg Uncertain significance Single submitter
- ACSL1 p.Gly539Glu Uncertain significance Single submitter
- ACSL1 p.Gly642Arg Uncertain significance Single submitter
- ACSL1 p.Ile100Met Uncertain significance Single submitter
- ACSL1 p.Ile174Ser Uncertain significance Single submitter
- ACSL1 p.Ile218Val Uncertain significance Single submitter
- ACSL1 p.Ile568Val Uncertain significance Single submitter
- ACSL1 p.Ile576Val Uncertain significance Single submitter
- ACSL1 p.Ile696Leu Uncertain significance Single submitter
- ACSL1 p.Lys532Glu Uncertain significance Single submitter
- ACSL1 p.Met334Val Uncertain significance Single submitter
- ACSL1 p.Met373Leu Uncertain significance Single submitter
- ACSL1 p.Met578Thr Uncertain significance Single submitter
- ACSL1 p.Phe417Leu Uncertain significance Single submitter
- ACSL1 p.Phe663Tyr Uncertain significance Single submitter
- ACSL1 p.Pro26Leu Uncertain significance Single submitter
- ACSL1 p.Pro360Ser Uncertain significance Single submitter
- ACSL1 p.Pro437Leu Uncertain significance Single submitter
- ACSL1 p.Ser196Pro Uncertain significance Single submitter
- ACSL1 p.Thr384Ala Uncertain significance Single submitter
- ACSL1 p.Thr444Met Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- ACSL1 p.Arg376Gln Uncertain significance Multiple submitters
- ACSL1 p.Ala206Val Uncertain significance Single submitter
- ACSL1 p.Ala477Thr Uncertain significance Single submitter
- ACSL1 p.Ala482Thr Uncertain significance Single submitter
- ACSL1 p.Ala569Val Uncertain significance Single submitter
- ACSL1 p.Arg291Gln Likely benign Single submitter
- ACSL1 p.Arg414Gln Uncertain significance Single submitter
- ACSL1 p.Arg429Trp Uncertain significance Single submitter
- ACSL1 p.Arg615Thr Uncertain significance Single submitter
- ACSL1 p.Arg682Trp Uncertain significance Single submitter
- ACSL1 p.Asn409His Uncertain significance Single submitter
- ACSL1 p.Gln148Leu Uncertain significance Single submitter
- ACSL1 p.Gln239His Uncertain significance Single submitter
- ACSL1 p.Gly231Ser Uncertain significance Single submitter
- ACSL1 p.Gly231Val Uncertain significance Single submitter
- ACSL1 p.Gly478Ala Uncertain significance Single submitter
- ACSL1 p.Gly616Arg Uncertain significance Single submitter
- ACSL1 p.Gly619Glu Uncertain significance Single submitter
- ACSL1 p.Gly68Cys Uncertain significance Single submitter
- ACSL1 p.His337Gln Uncertain significance Single submitter
- ACSL1 p.Ile573Thr Uncertain significance Single submitter
- ACSL1 p.Lys205Asn Uncertain significance Single submitter
- ACSL1 p.Ser422Leu Uncertain significance Single submitter
- ACSL1 p.Ser73Cys Uncertain significance Single submitter
- ACSL1 p.Ser78Gly Uncertain significance Single submitter
- ACSL1 p.Tyr21Cys Uncertain significance Single submitter
- ACSL1 p.Tyr21His Uncertain significance Single submitter
- ACSL1 p.Val175Ile Uncertain significance Single submitter
- ACSL1 p.Val213Ala Uncertain significance Single submitter
- ACSL1 p.Val22Met Uncertain significance Single submitter
- ACSL1 p.Val330Ala Uncertain significance Single submitter
- ACSL1 p.Val365Met Uncertain significance Single submitter
All ACSL1 variants
Likely benign 10
- p.Arg260Gln Single submitter
- p.Arg291Gln Single submitter ⚠
- p.Cys609Arg Single submitter
- p.Glu503Lys Single submitter
- p.Ile293Val Single submitter
- p.Lys207Asn Single submitter
- p.Pro50Ala Single submitter
- p.Thr144Ala Single submitter
- p.Thr246Ile Single submitter
- p.Tyr44= Single submitter
Uncertain significance 65
- p.Arg376Gln Multiple submitters ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala206Val Single submitter ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala435Thr Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Ala482Thr Single submitter ⚠
- p.Ala569Val Single submitter ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg237Gln Single submitter ⚠
- p.Arg23Ser Single submitter ⚠
- p.Arg414Gln Single submitter ⚠
- p.Arg429Trp Single submitter ⚠
- p.Arg555Gln Single submitter ⚠
- p.Arg615Thr Single submitter ⚠
- p.Arg682Trp Single submitter ⚠
- p.Asn306His Single submitter ⚠
- p.Asn409His Single submitter ⚠
- p.Cys463Tyr Single submitter ⚠
- p.Gln148His Single submitter ⚠
- p.Gln148Leu Single submitter ⚠
- p.Gln239His Single submitter ⚠
- p.Glu505Lys Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly231Val Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.Gly466Arg Single submitter ⚠
- p.Gly478Ala Single submitter ⚠
- p.Gly539Glu Single submitter ⚠
- p.Gly616Arg Single submitter ⚠
- p.Gly619Glu Single submitter ⚠
- p.Gly642Arg Single submitter ⚠
- p.Gly68Cys Single submitter ⚠
- p.His337Gln Single submitter ⚠
- p.Ile100Met Single submitter ⚠
- p.Ile174Ser Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Ile568Val Single submitter ⚠
- p.Ile573Thr Single submitter ⚠
- p.Ile576Val Single submitter ⚠
- p.Ile696Leu Single submitter ⚠
- p.Lys205Asn Single submitter ⚠
- p.Lys532Glu Single submitter ⚠
- p.Met334Val Single submitter ⚠
- p.Met373Leu Single submitter ⚠
- p.Met578Thr Single submitter ⚠
- p.Phe417Leu Single submitter ⚠
- p.Phe663Tyr Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro360Ser Single submitter ⚠
- p.Pro437Leu Single submitter ⚠
- p.Ser196Pro Single submitter ⚠
- p.Ser422Leu Single submitter ⚠
- p.Ser73Cys Single submitter ⚠
- p.Ser78Gly Single submitter ⚠
- p.Thr384Ala Single submitter ⚠
- p.Thr444Met Single submitter ⚠
- p.Tyr21Cys Single submitter ⚠
- p.Tyr21His Single submitter ⚠
- p.Val175Ile Single submitter ⚠
- p.Val213Ala Single submitter ⚠
- p.Val22Met Single submitter ⚠
- p.Val330Ala Single submitter ⚠
- p.Val365Met Single submitter ⚠