EFCAB11 — 28 ClinVar variants
All ClinVar germline EFCAB11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
28 Uncertain significance
Full EFCAB11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB11 p.Ala163Val Uncertain significance Single submitter
- EFCAB11 p.Arg7Thr Uncertain significance Single submitter
- EFCAB11 p.Arg93Gln Uncertain significance Single submitter
- EFCAB11 p.Asp144His Uncertain significance Single submitter
- EFCAB11 p.Cys30Arg Uncertain significance Single submitter
- EFCAB11 p.Glu32Asp Uncertain significance Single submitter
- EFCAB11 p.Glu5Asp Uncertain significance Single submitter
- EFCAB11 p.Glu77Lys Uncertain significance Single submitter
- EFCAB11 p.Glu95Asp Uncertain significance Single submitter
- EFCAB11 p.Gly78Arg Uncertain significance Single submitter
- EFCAB11 p.Lys161Glu Uncertain significance Single submitter
- EFCAB11 p.Lys87Arg Uncertain significance Single submitter
- EFCAB11 p.Phe2Ser Uncertain significance Single submitter
- EFCAB11 p.Ser10Leu Uncertain significance Single submitter
- EFCAB11 p.Trp23Ser Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- EFCAB11 p.Ala15Asp Uncertain significance Single submitter
- EFCAB11 p.Arg108His Uncertain significance Single submitter
- EFCAB11 p.Arg141Gly Uncertain significance Single submitter
- EFCAB11 p.Asp140Asn Uncertain significance Single submitter
- EFCAB11 p.Glu129Gly Uncertain significance Single submitter
- EFCAB11 p.Glu19Ala Uncertain significance Single submitter
- EFCAB11 p.Ile99Thr Uncertain significance Single submitter
- EFCAB11 p.Pro128Leu Uncertain significance Single submitter
- EFCAB11 p.Ser16Arg Uncertain significance Single submitter
- EFCAB11 p.Ser56Phe Uncertain significance Single submitter
All EFCAB11 variants
Uncertain significance 28
- p.Ala15Asp Single submitter ⚠
- p.Ala163Val Single submitter ⚠
- p.Arg108Cys Single submitter
- p.Arg108His Single submitter ⚠
- p.Arg141Gly Single submitter ⚠
- p.Arg7Thr Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Asp140Asn Single submitter ⚠
- p.Asp144His Single submitter ⚠
- p.Cys30Arg Single submitter ⚠
- p.Glu129Gly Single submitter ⚠
- p.Glu19Ala Single submitter ⚠
- p.Glu32Asp Single submitter ⚠
- p.Glu5Asp Single submitter ⚠
- p.Glu77Lys Single submitter ⚠
- p.Glu95Asp Single submitter ⚠
- p.Gly78Arg Single submitter ⚠
- p.Ile99Thr Single submitter ⚠
- p.Lys161Glu Single submitter ⚠
- p.Lys87Arg Single submitter ⚠
- p.Phe2Ser Single submitter ⚠
- p.Pro128Leu Single submitter ⚠
- p.Ser10Leu Single submitter ⚠
- p.Ser16Arg Single submitter ⚠
- p.Ser56Phe Single submitter ⚠
- p.Thr101Ile Single submitter
- p.Trp23Ser Single submitter ⚠
- p.Tyr37His Single submitter