CASP4 — 53 ClinVar variants
All ClinVar germline CASP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
3 Benign · 4 Likely benign · 46 Uncertain significance
Full CASP4 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.
- CASP4 p.Ala94Val Uncertain significance Single submitter
- CASP4 p.Arg136Ser Uncertain significance Single submitter
- CASP4 p.Arg259Ile Uncertain significance Single submitter
- CASP4 p.Glu145Asp Uncertain significance Single submitter
- CASP4 p.Glu341Asp Uncertain significance Single submitter
- CASP4 p.Glu63Lys Uncertain significance Single submitter
- CASP4 p.Glu98Asp Uncertain significance Single submitter
- CASP4 p.Glu98Gly Uncertain significance Single submitter
- CASP4 p.Gly168Arg Uncertain significance Single submitter
- CASP4 p.Gly24Ser Uncertain significance Single submitter
- CASP4 p.Gly376Arg Uncertain significance Single submitter
- CASP4 p.Gly69Arg Uncertain significance Single submitter
- CASP4 p.His89Leu Uncertain significance Single submitter
- CASP4 p.Ile128Val Uncertain significance Single submitter
- CASP4 p.Leu106Phe Uncertain significance Single submitter
- CASP4 p.Lys8Ile Uncertain significance Single submitter
- CASP4 p.Met162Thr Uncertain significance Single submitter
- CASP4 p.Met71Thr Uncertain significance Single submitter
- CASP4 p.Phe374Ser Uncertain significance Single submitter
- CASP4 p.Pro195Gln Uncertain significance Single submitter
- CASP4 p.Thr324Ile Uncertain significance Single submitter
- CASP4 p.Thr75Ser Uncertain significance Single submitter
- CASP4 p.Val296Met Uncertain significance Single submitter
- CASP4 p.Val30Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CASP4 p.Arg116Gly Uncertain significance Single submitter
- CASP4 p.Arg136His Uncertain significance Single submitter
- CASP4 p.Arg263Cys Uncertain significance Single submitter
- CASP4 p.Arg66His Uncertain significance Single submitter
- CASP4 p.Asp183Tyr Uncertain significance Single submitter
- CASP4 p.Cys329Tyr Uncertain significance Single submitter
- CASP4 p.Glu351Val Uncertain significance Single submitter
- CASP4 p.Gly376Ser Uncertain significance Single submitter
- CASP4 p.His197Leu Uncertain significance Single submitter
- CASP4 p.Ile159Leu Uncertain significance Single submitter
- CASP4 p.Lys42Glu Uncertain significance Single submitter
- CASP4 p.Lys42Thr Uncertain significance Single submitter
- CASP4 p.Lys43Arg Uncertain significance Single submitter
- CASP4 p.Lys43Asn Uncertain significance Single submitter
- CASP4 p.Phe371Leu Uncertain significance Single submitter
- CASP4 p.Pro226Thr Uncertain significance Single submitter
- CASP4 p.Ser199Pro Uncertain significance Single submitter
- CASP4 p.Thr180Lys Uncertain significance Single submitter
- CASP4 p.Thr307Ala Uncertain significance Single submitter
- CASP4 p.Thr307Met Uncertain significance Single submitter
- CASP4 p.Thr328Pro Uncertain significance Single submitter
- CASP4 p.Val346Ile Uncertain significance Single submitter
All CASP4 variants
Benign 3
- p.Asp47Asn Multiple submitters
- p.Glu284Asp Multiple submitters
- p.Tyr372fs Single submitter
Likely benign 4
- p.Arg269Ser Single submitter
- p.Asn85Ser Single submitter
- p.Gln81Lys Single submitter
- p.Ser283Pro Single submitter
Uncertain significance 46
- p.Ala94Val Single submitter ⚠
- p.Arg116Gly Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg136Ser Single submitter ⚠
- p.Arg259Ile Single submitter ⚠
- p.Arg263Cys Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Asp183Tyr Single submitter ⚠
- p.Cys329Tyr Single submitter ⚠
- p.Glu145Asp Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu351Val Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Glu98Asp Single submitter ⚠
- p.Glu98Gly Single submitter ⚠
- p.Gly168Arg Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly376Arg Single submitter ⚠
- p.Gly376Ser Single submitter ⚠
- p.Gly69Arg Single submitter ⚠
- p.His197Leu Single submitter ⚠
- p.His89Leu Single submitter ⚠
- p.Ile128Val Single submitter ⚠
- p.Ile159Leu Single submitter ⚠
- p.Leu106Phe Single submitter ⚠
- p.Lys42Glu Single submitter ⚠
- p.Lys42Thr Single submitter ⚠
- p.Lys43Arg Single submitter ⚠
- p.Lys43Asn Single submitter ⚠
- p.Lys8Ile Single submitter ⚠
- p.Met162Thr Single submitter ⚠
- p.Met71Thr Single submitter ⚠
- p.Phe371Leu Single submitter ⚠
- p.Phe374Ser Single submitter ⚠
- p.Pro195Gln Single submitter ⚠
- p.Pro226Thr Single submitter ⚠
- p.Ser199Pro Single submitter ⚠
- p.Thr180Lys Single submitter ⚠
- p.Thr307Ala Single submitter ⚠
- p.Thr307Met Single submitter ⚠
- p.Thr324Ile Single submitter ⚠
- p.Thr328Pro Single submitter ⚠
- p.Thr75Ser Single submitter ⚠
- p.Val296Met Single submitter ⚠
- p.Val30Met Single submitter ⚠
- p.Val346Ile Single submitter ⚠