CASP6 — 32 ClinVar variants
All ClinVar germline CASP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Likely benign · 31 Uncertain significance
Full CASP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASP6 p.Ala129Val Uncertain significance Single submitter
- CASP6 p.Ala194Gly Uncertain significance Single submitter
- CASP6 p.Arg220Gln Uncertain significance Single submitter
- CASP6 p.Arg260Gln Uncertain significance Single submitter
- CASP6 p.Arg8His Uncertain significance Single submitter
- CASP6 p.Asp112Asn Uncertain significance Single submitter
- CASP6 p.Gly165Val Uncertain significance Single submitter
- CASP6 p.Gly225Ser Uncertain significance Single submitter
- CASP6 p.His58Tyr Uncertain significance Single submitter
- CASP6 p.Ile157Leu Uncertain significance Single submitter
- CASP6 p.Ile270Met Uncertain significance Single submitter
- CASP6 p.Lys285Met Uncertain significance Single submitter
- CASP6 p.Met281Val Uncertain significance Single submitter
- CASP6 p.Phe25Cys Uncertain significance Single submitter
- CASP6 p.Pro33Ser Uncertain significance Single submitter
- CASP6 p.Ser120Thr Uncertain significance Single submitter
- CASP6 p.Ser5Leu Uncertain significance Single submitter
- CASP6 p.Thr250Arg Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CASP6 p.Arg164Gln Uncertain significance Single submitter
- CASP6 p.Arg76Cys Uncertain significance Single submitter
- CASP6 p.Arg76Gly Uncertain significance Single submitter
- CASP6 p.Arg76His Uncertain significance Single submitter
- CASP6 p.Gln258Glu Uncertain significance Single submitter
- CASP6 p.Glu53Gln Uncertain significance Single submitter
- CASP6 p.Ile49Val Uncertain significance Single submitter
- CASP6 p.Met208Thr Uncertain significance Single submitter
- CASP6 p.Phe288Leu Uncertain significance Single submitter
- CASP6 p.Pro267Gln Uncertain significance Single submitter
- CASP6 p.Ser268Gly Uncertain significance Single submitter
- CASP6 p.Thr199Met Uncertain significance Single submitter
- CASP6 p.Val197Ile Uncertain significance Single submitter
All CASP6 variants
Likely benign 1
- p.Val177Ala Single submitter
Uncertain significance 31
- p.Ala129Val Single submitter ⚠
- p.Ala194Gly Single submitter ⚠
- p.Arg164Gln Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg260Gln Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Arg76Gly Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Asp112Asn Single submitter ⚠
- p.Gln258Glu Single submitter ⚠
- p.Glu53Gln Single submitter ⚠
- p.Gly165Val Single submitter ⚠
- p.Gly225Ser Single submitter ⚠
- p.His58Tyr Single submitter ⚠
- p.Ile157Leu Single submitter ⚠
- p.Ile270Met Single submitter ⚠
- p.Ile49Val Single submitter ⚠
- p.Lys285Met Single submitter ⚠
- p.Met208Thr Single submitter ⚠
- p.Met281Val Single submitter ⚠
- p.Phe25Cys Single submitter ⚠
- p.Phe288Leu Single submitter ⚠
- p.Pro267Gln Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Ser120Thr Single submitter ⚠
- p.Ser268Gly Single submitter ⚠
- p.Ser5Leu Single submitter ⚠
- p.Thr199Met Single submitter ⚠
- p.Thr250Arg Single submitter ⚠
- p.Val197Ile Single submitter ⚠