CTSL — 50 ClinVar variants
All ClinVar germline CTSL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Benign · 4 Likely benign · 45 Uncertain significance
Full CTSL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTSL p.Thr207Ile Uncertain significance Multiple submitters
- CTSL p.Ala143Thr Uncertain significance Single submitter
- CTSL p.Ala50Gly Uncertain significance Single submitter
- CTSL p.Asn43Asp Uncertain significance Single submitter
- CTSL p.Asp119Tyr Uncertain significance Single submitter
- CTSL p.Asp317Asn Uncertain significance Single submitter
- CTSL p.Gln107Arg Uncertain significance Single submitter
- CTSL p.Glu209Gly Uncertain significance Single submitter
- CTSL p.Glu68Ala Uncertain significance Single submitter
- CTSL p.Glu87Lys Uncertain significance Single submitter
- CTSL p.Gly171Arg Uncertain significance Single submitter
- CTSL p.His23Gln Uncertain significance Single submitter
- CTSL p.Ile14Val Uncertain significance Single submitter
- CTSL p.Ile6Val Uncertain significance Single submitter
- CTSL p.Leu110Met Uncertain significance Single submitter
- CTSL p.Lys154Asn Uncertain significance Single submitter
- CTSL p.Met75Ile Uncertain significance Single submitter
- CTSL p.Met75Thr Uncertain significance Single submitter
- CTSL p.Phe141Ser Uncertain significance Single submitter
- CTSL p.Thr4Ala Uncertain significance Single submitter
- CTSL p.Thr74Lys Uncertain significance Single submitter
- CTSL p.Tyr311Cys Uncertain significance Single submitter
- CTSL p.Tyr330His Uncertain significance Single submitter
- CTSL p.Val278Ala Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CTSL p.Ser117Tyr Benign Multiple submitters
- CTSL p.Ala15Val Uncertain significance Single submitter
- CTSL p.Ala220Gly Uncertain significance Single submitter
- CTSL p.Arg153Gln Uncertain significance Single submitter
- CTSL p.Arg153Trp Uncertain significance Single submitter
- CTSL p.Arg318Trp Uncertain significance Single submitter
- CTSL p.Arg98Cys Uncertain significance Single submitter
- CTSL p.Asn131Lys Uncertain significance Single submitter
- CTSL p.Asn179Ser Uncertain significance Single submitter
- CTSL p.Gln134Arg Uncertain significance Single submitter
- CTSL p.His253Arg Uncertain significance Single submitter
- CTSL p.Ile159Met Uncertain significance Single submitter
- CTSL p.Ile6Met Uncertain significance Single submitter
- CTSL p.Lys260Arg Uncertain significance Single submitter
- CTSL p.Met314Val Uncertain significance Single submitter
- CTSL p.Phe285Cys Uncertain significance Single submitter
- CTSL p.Ser160Leu Uncertain significance Single submitter
- CTSL p.Tyr125Cys Uncertain significance Single submitter
- CTSL p.Tyr125His Uncertain significance Single submitter
- CTSL p.Val118Leu Uncertain significance Single submitter
- CTSL p.Val167Ile Uncertain significance Single submitter
- CTSL p.Val281Ile Uncertain significance Single submitter
All CTSL variants
Benign 1
- p.Ser117Tyr Multiple submitters ⚠
Likely benign 4
- p.Asn2Thr Single submitter
- p.Asp192Glu Single submitter
- p.Gly284= Single submitter
- p.Val312Ile Single submitter
Uncertain significance 45
- p.Thr207Ile Multiple submitters ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala15Val Single submitter ⚠
- p.Ala220Gly Single submitter ⚠
- p.Ala50Gly Single submitter ⚠
- p.Arg153Gln Single submitter ⚠
- p.Arg153Trp Single submitter ⚠
- p.Arg318Trp Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn131Lys Single submitter ⚠
- p.Asn179Ser Single submitter ⚠
- p.Asn43Asp Single submitter ⚠
- p.Asp119Tyr Single submitter ⚠
- p.Asp317Asn Single submitter ⚠
- p.Gln107Arg Single submitter ⚠
- p.Gln134Arg Single submitter ⚠
- p.Glu209Gly Single submitter ⚠
- p.Glu68Ala Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Gly171Arg Single submitter ⚠
- p.His23Gln Single submitter ⚠
- p.His253Arg Single submitter ⚠
- p.Ile14Val Single submitter ⚠
- p.Ile159Met Single submitter ⚠
- p.Ile6Met Single submitter ⚠
- p.Ile6Val Single submitter ⚠
- p.Leu110Met Single submitter ⚠
- p.Lys154Asn Single submitter ⚠
- p.Lys260Arg Single submitter ⚠
- p.Met314Val Single submitter ⚠
- p.Met75Ile Single submitter ⚠
- p.Met75Thr Single submitter ⚠
- p.Phe141Ser Single submitter ⚠
- p.Phe285Cys Single submitter ⚠
- p.Ser160Leu Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Thr74Lys Single submitter ⚠
- p.Tyr125Cys Single submitter ⚠
- p.Tyr125His Single submitter ⚠
- p.Tyr311Cys Single submitter ⚠
- p.Tyr330His Single submitter ⚠
- p.Val118Leu Single submitter ⚠
- p.Val167Ile Single submitter ⚠
- p.Val278Ala Single submitter ⚠
- p.Val281Ile Single submitter ⚠