FKBP1A — 12 ClinVar variants
All ClinVar germline FKBP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
5 Likely benign · 7 Uncertain significance
Full FKBP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 5
The independent predictors disagree with each other — read with care.
All FKBP1A variants
Likely benign 5
Uncertain significance 7
- p.Ala96Thr Single submitter ⚠
- p.Asn44Lys Single submitter ⚠
- p.Asp101Glu Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro94Ala Single submitter ⚠
- p.Val64Asp Single submitter ⚠
- p.Val5Met No assertion criteria ⚠