CAPSL — 40 ClinVar variants
All ClinVar germline CAPSL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Benign · 39 Uncertain significance
Full CAPSL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPSL p.Ala2Ser Uncertain significance Single submitter
- CAPSL p.Asp135Glu Uncertain significance Single submitter
- CAPSL p.Asp90Tyr Uncertain significance Single submitter
- CAPSL p.Gln32His Uncertain significance Single submitter
- CAPSL p.Gly151Arg Uncertain significance Single submitter
- CAPSL p.Gly37Val Uncertain significance Single submitter
- CAPSL p.Gly43Arg Uncertain significance Single submitter
- CAPSL p.His144Tyr Uncertain significance Single submitter
- CAPSL p.His7Tyr Uncertain significance Single submitter
- CAPSL p.Ile192Thr Uncertain significance Single submitter
- CAPSL p.Ile199Val Uncertain significance Single submitter
- CAPSL p.Leu136Pro Uncertain significance Single submitter
- CAPSL p.Leu44Pro Uncertain significance Single submitter
- CAPSL p.Lys89Arg Uncertain significance Single submitter
- CAPSL p.Met108Ile Uncertain significance Single submitter
- CAPSL p.Met201Ile Uncertain significance Single submitter
- CAPSL p.Phe120Val Uncertain significance Single submitter
- CAPSL p.Phe48Leu Uncertain significance Single submitter
- CAPSL p.Phe84Leu Uncertain significance Single submitter
- CAPSL p.Ser189Arg Uncertain significance Single submitter
- CAPSL p.Thr177Ser Uncertain significance Single submitter
- CAPSL p.Thr20Ser Uncertain significance Single submitter
- CAPSL p.Trp206Cys Uncertain significance Single submitter
- CAPSL p.Tyr140Cys Uncertain significance Single submitter
- CAPSL p.Tyr197Cys Uncertain significance Single submitter
- CAPSL p.Val196Met Uncertain significance Single submitter
-
CAPSL p.Gly67Glu
Uncertain significance
No assertion criteria
autism
Predictors split 13
The independent predictors disagree with each other — read with care.
- CAPSL p.Met201Val Benign Multiple submitters
- CAPSL p.Phe61Val Uncertain significance Multiple submitters
- CAPSL p.Arg137Cys Uncertain significance Single submitter
- CAPSL p.Arg137His Uncertain significance Single submitter
- CAPSL p.Arg137Leu Uncertain significance Single submitter
- CAPSL p.Arg160Thr Uncertain significance Single submitter
- CAPSL p.Asp60Ala Uncertain significance Single submitter
- CAPSL p.Glu10Gln Uncertain significance Single submitter
- CAPSL p.Glu114Ala Uncertain significance Single submitter
- CAPSL p.Lys16Thr Uncertain significance Single submitter
- CAPSL p.Met75Ile Uncertain significance Single submitter
- CAPSL p.Thr21Met Uncertain significance Single submitter
- CAPSL p.Val80Met Uncertain significance Single submitter
All CAPSL variants
Benign 1
- p.Met201Val Multiple submitters ⚠
Uncertain significance 39
- p.Phe61Val Multiple submitters ⚠
- p.Ala2Ser Single submitter ⚠
- p.Arg137Cys Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg137Leu Single submitter ⚠
- p.Arg160Thr Single submitter ⚠
- p.Asp135Glu Single submitter ⚠
- p.Asp60Ala Single submitter ⚠
- p.Asp90Tyr Single submitter ⚠
- p.Gln32His Single submitter ⚠
- p.Glu10Gln Single submitter ⚠
- p.Glu114Ala Single submitter ⚠
- p.Gly151Arg Single submitter ⚠
- p.Gly37Val Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.His144Tyr Single submitter ⚠
- p.His7Tyr Single submitter ⚠
- p.Ile192Thr Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Leu136Pro Single submitter ⚠
- p.Leu44Pro Single submitter ⚠
- p.Lys16Thr Single submitter ⚠
- p.Lys89Arg Single submitter ⚠
- p.Met108Ile Single submitter ⚠
- p.Met201Ile Single submitter ⚠
- p.Met75Ile Single submitter ⚠
- p.Phe120Val Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Phe84Leu Single submitter ⚠
- p.Ser189Arg Single submitter ⚠
- p.Thr177Ser Single submitter ⚠
- p.Thr20Ser Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Trp206Cys Single submitter ⚠
- p.Tyr140Cys Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Val196Met Single submitter ⚠
- p.Val80Met Single submitter ⚠
- p.Gly67Glu No assertion criteria autism ⚠