ABRACL — 16 ClinVar variants
All ClinVar germline ABRACL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
16 Uncertain significance
Full ABRACL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABRACL p.Arg16Cys Uncertain significance Single submitter
- ABRACL p.Arg16Pro Uncertain significance Single submitter
- ABRACL p.Asp23Glu Uncertain significance Single submitter
- ABRACL p.Gly69Arg Uncertain significance Single submitter
- ABRACL p.Gly69Asp Uncertain significance Single submitter
- ABRACL p.His71Leu Uncertain significance Single submitter
- ABRACL p.Val28Met Uncertain significance Single submitter
- ABRACL p.Val3Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ABRACL p.Ala22Thr Uncertain significance Single submitter
- ABRACL p.Glu13Lys Uncertain significance Single submitter
- ABRACL p.Ile77Met Uncertain significance Single submitter
- ABRACL p.Ile77Thr Uncertain significance Single submitter
- ABRACL p.Lys38Glu Uncertain significance Single submitter
- ABRACL p.Ser27Asn Uncertain significance Single submitter
- ABRACL p.Val74Ile Uncertain significance Single submitter
- ABRACL p.Val7Leu Uncertain significance Single submitter
All ABRACL variants
Uncertain significance 16
- p.Ala22Thr Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Arg16Pro Single submitter ⚠
- p.Asp23Glu Single submitter ⚠
- p.Glu13Lys Single submitter ⚠
- p.Gly69Arg Single submitter ⚠
- p.Gly69Asp Single submitter ⚠
- p.His71Leu Single submitter ⚠
- p.Ile77Met Single submitter ⚠
- p.Ile77Thr Single submitter ⚠
- p.Lys38Glu Single submitter ⚠
- p.Ser27Asn Single submitter ⚠
- p.Val28Met Single submitter ⚠
- p.Val3Met Single submitter ⚠
- p.Val74Ile Single submitter ⚠
- p.Val7Leu Single submitter ⚠