FFAR1 — 49 ClinVar variants
All ClinVar germline FFAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Pathogenic · 2 Likely benign · 46 Uncertain significance
Full FFAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FFAR1 p.Ala116Thr Uncertain significance Single submitter
- FFAR1 p.Ala173Thr Uncertain significance Single submitter
- FFAR1 p.Ala229Val Uncertain significance Single submitter
- FFAR1 p.Ala246Thr Uncertain significance Single submitter
- FFAR1 p.Ala246Val Uncertain significance Single submitter
- FFAR1 p.Ala30Thr Uncertain significance Single submitter
- FFAR1 p.Ala32Gly Uncertain significance Single submitter
- FFAR1 p.Ala76Val Uncertain significance Single submitter
- FFAR1 p.Arg183His Uncertain significance Single submitter
- FFAR1 p.Arg207Trp Uncertain significance Single submitter
- FFAR1 p.Arg218Gln Uncertain significance Single submitter
- FFAR1 p.Arg37His Uncertain significance Single submitter
- FFAR1 p.Asn252Ser Uncertain significance Single submitter
- FFAR1 p.Gln294Arg Uncertain significance Single submitter
- FFAR1 p.Gly143Glu Uncertain significance Single submitter
- FFAR1 p.Gly180Asp Uncertain significance Single submitter
- FFAR1 p.Gly255Arg Uncertain significance Single submitter
- FFAR1 p.Gly280Arg Uncertain significance Single submitter
- FFAR1 p.Gly70Arg Uncertain significance Single submitter
- FFAR1 p.Leu11Val Uncertain significance Single submitter
- FFAR1 p.Leu195Val Uncertain significance Single submitter
- FFAR1 p.Leu260Val Uncertain significance Single submitter
- FFAR1 p.Leu271Phe Uncertain significance Single submitter
- FFAR1 p.Leu67Gln Uncertain significance Single submitter
- FFAR1 p.Leu97Pro Uncertain significance Single submitter
- FFAR1 p.Phe117Val Uncertain significance Single submitter
- FFAR1 p.Phe191Leu Uncertain significance Single submitter
- FFAR1 p.Phe192Cys Uncertain significance Single submitter
- FFAR1 p.Pro168Leu Uncertain significance Single submitter
- FFAR1 p.Pro283Leu Uncertain significance Single submitter
- FFAR1 p.Pro5Ala Uncertain significance Single submitter
- FFAR1 p.Pro5Arg Uncertain significance Single submitter
- FFAR1 p.Pro89Ser Uncertain significance Single submitter
- FFAR1 p.Ser77Leu Uncertain significance Single submitter
- FFAR1 p.Thr31Met Uncertain significance Single submitter
- FFAR1 p.Val126Met Uncertain significance Single submitter
- FFAR1 p.Val225Met Uncertain significance Single submitter
- FFAR1 p.Val237Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- FFAR1 p.Ala128Glu Uncertain significance Single submitter
- FFAR1 p.Arg207Pro Uncertain significance Single submitter
- FFAR1 p.Arg35Trp Uncertain significance Single submitter
- FFAR1 p.Gly70Ala Uncertain significance Single submitter
- FFAR1 p.Leu171Pro Uncertain significance Single submitter
- FFAR1 p.Leu189Pro Uncertain significance Single submitter
- FFAR1 p.Leu214Pro Uncertain significance Single submitter
- FFAR1 p.Leu249Gln Uncertain significance Single submitter
All FFAR1 variants
Pathogenic 1
- p.Asn23_Val24insPhe No assertion criteria hypercholesterolemia, familial, 1
Likely benign 2
- p.Gly10Ala Single submitter
- p.Thr156Ser Single submitter
Uncertain significance 46
- p.Ala116Thr Single submitter ⚠
- p.Ala128Glu Single submitter ⚠
- p.Ala173Thr Single submitter ⚠
- p.Ala229Val Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala32Gly Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Arg183His Single submitter ⚠
- p.Arg207Pro Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg35Trp Single submitter ⚠
- p.Arg37His Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Gln294Arg Single submitter ⚠
- p.Gly143Glu Single submitter ⚠
- p.Gly180Asp Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly280Arg Single submitter ⚠
- p.Gly70Ala Single submitter ⚠
- p.Gly70Arg Single submitter ⚠
- p.Leu11Val Single submitter ⚠
- p.Leu171Pro Single submitter ⚠
- p.Leu189Pro Single submitter ⚠
- p.Leu195Val Single submitter ⚠
- p.Leu214Pro Single submitter ⚠
- p.Leu249Gln Single submitter ⚠
- p.Leu260Val Single submitter ⚠
- p.Leu271Phe Single submitter ⚠
- p.Leu67Gln Single submitter ⚠
- p.Leu97Pro Single submitter ⚠
- p.Phe117Val Single submitter ⚠
- p.Phe191Leu Single submitter ⚠
- p.Phe192Cys Single submitter ⚠
- p.Pro168Leu Single submitter ⚠
- p.Pro283Leu Single submitter ⚠
- p.Pro5Ala Single submitter ⚠
- p.Pro5Arg Single submitter ⚠
- p.Pro89Ser Single submitter ⚠
- p.Ser77Leu Single submitter ⚠
- p.Thr31Met Single submitter ⚠
- p.Val126Met Single submitter ⚠
- p.Val225Met Single submitter ⚠
- p.Val237Ile Single submitter ⚠