ACSL5 — 99 ClinVar variants
All ClinVar germline ACSL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
1 Pathogenic · 4 Benign · 10 Likely benign · 84 Uncertain significance
Full ACSL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSL5 p.Ala181Thr Uncertain significance Single submitter
- ACSL5 p.Arg114Gly Uncertain significance Single submitter
- ACSL5 p.Arg313Met Uncertain significance Single submitter
- ACSL5 p.Arg540Cys Uncertain significance Single submitter
- ACSL5 p.Arg540His Uncertain significance Single submitter
- ACSL5 p.Arg663Gln Uncertain significance Single submitter
- ACSL5 p.Arg671Gln Uncertain significance Single submitter
- ACSL5 p.Asn45Asp Uncertain significance Single submitter
- ACSL5 p.Asp332Tyr Uncertain significance Single submitter
- ACSL5 p.Cys19Trp Uncertain significance Single submitter
- ACSL5 p.Cys437Tyr Uncertain significance Single submitter
- ACSL5 p.Gln682Arg Uncertain significance Single submitter
- ACSL5 p.Gly167Arg Uncertain significance Single submitter
- ACSL5 p.Gly270Glu Uncertain significance Single submitter
- ACSL5 p.Gly575Arg Uncertain significance Single submitter
- ACSL5 p.His680Asp Uncertain significance Single submitter
- ACSL5 p.Ile174Val Uncertain significance Single submitter
- ACSL5 p.Ile184Thr Uncertain significance Single submitter
- ACSL5 p.Ile626Thr Uncertain significance Single submitter
- ACSL5 p.Leu582Ser Uncertain significance Single submitter
- ACSL5 p.Leu94Ser Uncertain significance Single submitter
- ACSL5 p.Lys372Arg Uncertain significance Single submitter
- ACSL5 p.Lys475Arg Uncertain significance Single submitter
- ACSL5 p.Met157Leu Uncertain significance Single submitter
- ACSL5 p.Met340Leu Uncertain significance Single submitter
- ACSL5 p.Met340Thr Uncertain significance Single submitter
- ACSL5 p.Phe396Val Uncertain significance Single submitter
- ACSL5 p.Pro13Leu Uncertain significance Single submitter
- ACSL5 p.Pro295Leu Uncertain significance Single submitter
- ACSL5 p.Pro297Ala Uncertain significance Single submitter
- ACSL5 p.Pro555Ser Uncertain significance Single submitter
- ACSL5 p.Ser251Arg Uncertain significance Single submitter
- ACSL5 p.Ser577Arg Uncertain significance Single submitter
- ACSL5 p.Ser68Thr Uncertain significance Single submitter
- ACSL5 p.Thr658Pro Uncertain significance Single submitter
- ACSL5 p.Trp30Arg Uncertain significance Single submitter
- ACSL5 p.Tyr234Cys Uncertain significance Single submitter
- ACSL5 p.Val208Glu Uncertain significance Single submitter
- ACSL5 p.Val500Met Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- ACSL5 p.Pro40His Benign Multiple submitters
- ACSL5 p.Ala598Gly Uncertain significance Single submitter
- ACSL5 p.Arg325Thr Uncertain significance Single submitter
- ACSL5 p.Arg334Gln Likely benign Single submitter
- ACSL5 p.Arg412Met Uncertain significance Single submitter
- ACSL5 p.Arg432Gln Uncertain significance Single submitter
- ACSL5 p.Arg579Trp Uncertain significance Single submitter
- ACSL5 p.Asn197Lys Uncertain significance Single submitter
- ACSL5 p.Asn560His Uncertain significance Single submitter
- ACSL5 p.Asn652His Uncertain significance Single submitter
- ACSL5 p.Asn90Lys Uncertain significance Single submitter
- ACSL5 p.Asp43His Uncertain significance Single submitter
- ACSL5 p.Asp683Tyr Uncertain significance Single submitter
- ACSL5 p.Cys185Ser Uncertain significance Single submitter
- ACSL5 p.Gln512His Uncertain significance Single submitter
- ACSL5 p.Glu169Ala Uncertain significance Single submitter
- ACSL5 p.Glu385Lys Uncertain significance Single submitter
- ACSL5 p.Glu646Asp Uncertain significance Single submitter
- ACSL5 p.Ile137Val Uncertain significance Single submitter
- ACSL5 p.Ile416Phe Uncertain significance Single submitter
- ACSL5 p.Ile538Thr Uncertain significance Single submitter
- ACSL5 p.Ile558Thr Uncertain significance Single submitter
- ACSL5 p.Leu123Val Uncertain significance Single submitter
- ACSL5 p.Leu347Met Uncertain significance Single submitter
- ACSL5 p.Lys225Asn Uncertain significance Single submitter
- ACSL5 p.Lys510Glu Uncertain significance Single submitter
- ACSL5 p.Lys668Arg Uncertain significance Single submitter
- ACSL5 p.Pro35Thr Uncertain significance Single submitter
- ACSL5 p.Pro99Thr Uncertain significance Single submitter
- ACSL5 p.Ser120Cys Uncertain significance Single submitter
- ACSL5 p.Ser156Thr Uncertain significance Single submitter
- ACSL5 p.Ser48Cys Uncertain significance Single submitter
- ACSL5 p.Ser595Leu Uncertain significance Single submitter
- ACSL5 p.Ser605Phe Uncertain significance Single submitter
- ACSL5 p.Thr154Met Uncertain significance Single submitter
- ACSL5 p.Thr461Ala Uncertain significance Single submitter
- ACSL5 p.Thr461Ile Uncertain significance Single submitter
- ACSL5 p.Tyr484Cys Uncertain significance Single submitter
- ACSL5 p.Val172Ile Likely benign Single submitter
- ACSL5 p.Val315Ala Uncertain significance Single submitter
- ACSL5 p.Val465Ile Uncertain significance Single submitter
- ACSL5 p.Val474Met Uncertain significance Single submitter
- ACSL5 p.Val602Ala Uncertain significance Single submitter
All ACSL5 variants
Pathogenic 1
- p.Thr453Lys No assertion criteria diarrhea 13
Benign 4
- p.Leu377= Multiple submitters
- p.Pro40His Multiple submitters ⚠
- p.Thr486Ala Multiple submitters
- c.433-10C>T Single submitter
Likely benign 10
- c.-30+2048C>T Single submitter
- c.-30+2105C>T Single submitter
- c.-30+2175G>A Single submitter
- p.Ala236= Single submitter
- p.Arg334Gln Single submitter ⚠
- p.Cys69Tyr Single submitter
- p.Tyr440Phe Single submitter
- p.Val172Ile Single submitter ⚠
- p.Val257Ile Single submitter
- p.Val415Leu Single submitter
Uncertain significance 84
- c.-30+2050C>G Single submitter
- c.-30+2076C>A Single submitter
- c.-30+2100G>C Single submitter
- c.-30+2128C>T Single submitter
- c.-30+2164G>T Single submitter
- p.Ala181Thr Single submitter ⚠
- p.Ala598Gly Single submitter ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg313Met Single submitter ⚠
- p.Arg325Thr Single submitter ⚠
- p.Arg412Met Single submitter ⚠
- p.Arg432Gln Single submitter ⚠
- p.Arg540Cys Single submitter ⚠
- p.Arg540His Single submitter ⚠
- p.Arg579Trp Single submitter ⚠
- p.Arg663Gln Single submitter ⚠
- p.Arg671Gln Single submitter ⚠
- p.Asn197Lys Single submitter ⚠
- p.Asn45Asp Single submitter ⚠
- p.Asn560His Single submitter ⚠
- p.Asn652His Single submitter ⚠
- p.Asn90Lys Single submitter ⚠
- p.Asp332Tyr Single submitter ⚠
- p.Asp43His Single submitter ⚠
- p.Asp683Tyr Single submitter ⚠
- p.Cys185Ser Single submitter ⚠
- p.Cys19Trp Single submitter ⚠
- p.Cys437Tyr Single submitter ⚠
- p.Gln512His Single submitter ⚠
- p.Gln682Arg Single submitter ⚠
- p.Glu169Ala Single submitter ⚠
- p.Glu385Lys Single submitter ⚠
- p.Glu646Asp Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly270Glu Single submitter ⚠
- p.Gly575Arg Single submitter ⚠
- p.His680Asp Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile184Thr Single submitter ⚠
- p.Ile416Phe Single submitter ⚠
- p.Ile538Thr Single submitter ⚠
- p.Ile558Thr Single submitter ⚠
- p.Ile626Thr Single submitter ⚠
- p.Leu123Val Single submitter ⚠
- p.Leu347Met Single submitter ⚠
- p.Leu582Ser Single submitter ⚠
- p.Leu94Ser Single submitter ⚠
- p.Lys225Asn Single submitter ⚠
- p.Lys372Arg Single submitter ⚠
- p.Lys475Arg Single submitter ⚠
- p.Lys510Glu Single submitter ⚠
- p.Lys668Arg Single submitter ⚠
- p.Met157Leu Single submitter ⚠
- p.Met340Leu Single submitter ⚠
- p.Met340Thr Single submitter ⚠
- p.Phe396Val Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro295Leu Single submitter ⚠
- p.Pro297Ala Single submitter ⚠
- p.Pro35Thr Single submitter ⚠
- p.Pro555Ser Single submitter ⚠
- p.Pro99Thr Single submitter ⚠
- p.Ser120Cys Single submitter ⚠
- p.Ser156Thr Single submitter ⚠
- p.Ser251Arg Single submitter ⚠
- p.Ser48Cys Single submitter ⚠
- p.Ser577Arg Single submitter ⚠
- p.Ser595Leu Single submitter ⚠
- p.Ser605Phe Single submitter ⚠
- p.Ser68Thr Single submitter ⚠
- p.Thr154Met Single submitter ⚠
- p.Thr461Ala Single submitter ⚠
- p.Thr461Ile Single submitter ⚠
- p.Thr658Pro Single submitter ⚠
- p.Trp30Arg Single submitter ⚠
- p.Tyr234Cys Single submitter ⚠
- p.Tyr484Cys Single submitter ⚠
- p.Val208Glu Single submitter ⚠
- p.Val315Ala Single submitter ⚠
- p.Val465Ile Single submitter ⚠
- p.Val474Met Single submitter ⚠
- p.Val500Met Single submitter ⚠
- p.Val602Ala Single submitter ⚠