CCSAP — 33 ClinVar variants
All ClinVar germline CCSAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
1 Likely benign · 32 Uncertain significance
Full CCSAP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCSAP p.Ala208Thr Uncertain significance Single submitter
- CCSAP p.Arg152Gln Uncertain significance Single submitter
- CCSAP p.Arg37Cys Uncertain significance Single submitter
- CCSAP p.Asp115Glu Uncertain significance Single submitter
- CCSAP p.Asp143Glu Uncertain significance Single submitter
- CCSAP p.Asp143Gly Uncertain significance Single submitter
- CCSAP p.Asp195Asn Uncertain significance Single submitter
- CCSAP p.Asp195His Uncertain significance Single submitter
- CCSAP p.Asp50Glu Uncertain significance Single submitter
- CCSAP p.Glu130Gly Uncertain significance Single submitter
- CCSAP p.Glu134Lys Uncertain significance Single submitter
- CCSAP p.Glu141Gln Uncertain significance Single submitter
- CCSAP p.Gly109Arg Uncertain significance Single submitter
- CCSAP p.Gly70Glu Uncertain significance Single submitter
- CCSAP p.Gly71Asp Uncertain significance Single submitter
- CCSAP p.Ile177Thr Uncertain significance Single submitter
- CCSAP p.Lys245Arg Uncertain significance Single submitter
- CCSAP p.Met12Arg Uncertain significance Single submitter
- CCSAP p.Pro101Leu Uncertain significance Single submitter
- CCSAP p.Ser66Ala Uncertain significance Single submitter
- CCSAP p.Val126Ala Uncertain significance Single submitter
- CCSAP p.Val85Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CCSAP p.Ala113Thr Uncertain significance Single submitter
- CCSAP p.Arg14His Uncertain significance Single submitter
- CCSAP p.Arg224Gly Uncertain significance Single submitter
- CCSAP p.Arg235Ser Uncertain significance Single submitter
- CCSAP p.Asp51Tyr Uncertain significance Single submitter
- CCSAP p.Gln42His Uncertain significance Single submitter
- CCSAP p.Glu227Lys Uncertain significance Single submitter
- CCSAP p.Glu59Gln Uncertain significance Single submitter
- CCSAP p.Gly70Trp Uncertain significance Single submitter
- CCSAP p.Pro25Leu Uncertain significance Single submitter
All CCSAP variants
Likely benign 1
- p.Ala251Pro Single submitter
Uncertain significance 32
- p.Ala113Thr Single submitter ⚠
- p.Ala208Thr Single submitter ⚠
- p.Arg14His Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg224Gly Single submitter ⚠
- p.Arg235Ser Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Asp115Glu Single submitter ⚠
- p.Asp143Glu Single submitter ⚠
- p.Asp143Gly Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Asp195His Single submitter ⚠
- p.Asp50Glu Single submitter ⚠
- p.Asp51Tyr Single submitter ⚠
- p.Gln42His Single submitter ⚠
- p.Glu130Gly Single submitter ⚠
- p.Glu134Lys Single submitter ⚠
- p.Glu141Gln Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu59Gln Single submitter ⚠
- p.Gly109Arg Single submitter ⚠
- p.Gly70Glu Single submitter ⚠
- p.Gly70Trp Single submitter ⚠
- p.Gly71Asp Single submitter ⚠
- p.Ile177Thr Single submitter ⚠
- p.Lys245Arg Single submitter ⚠
- p.Met12Arg Single submitter ⚠
- p.Pro101Leu Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Ser66Ala Single submitter ⚠
- p.Val126Ala Single submitter ⚠
- p.Val85Leu Single submitter ⚠