EPDR1 — 30 ClinVar variants
All ClinVar germline EPDR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Likely benign · 29 Uncertain significance
Full EPDR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPDR1 p.Ala109Thr Uncertain significance Single submitter
- EPDR1 p.Ala5Ser Uncertain significance Single submitter
- EPDR1 p.Ala84Glu Uncertain significance Single submitter
- EPDR1 p.Arg190Trp Uncertain significance Single submitter
- EPDR1 p.Arg75Ser Uncertain significance Single submitter
- EPDR1 p.Asp70Glu Uncertain significance Single submitter
- EPDR1 p.Gln112Lys Uncertain significance Single submitter
- EPDR1 p.Gln136Glu Uncertain significance Single submitter
- EPDR1 p.Gln145Lys Uncertain significance Single submitter
- EPDR1 p.Gln176Pro Uncertain significance Single submitter
- EPDR1 p.Gln52Glu Uncertain significance Single submitter
- EPDR1 p.Gly141Trp Uncertain significance Single submitter
- EPDR1 p.Gly60Ala Uncertain significance Single submitter
- EPDR1 p.Ile127Ser Uncertain significance Single submitter
- EPDR1 p.Ile139Thr Uncertain significance Single submitter
- EPDR1 p.Ile186Leu Uncertain significance Single submitter
- EPDR1 p.Leu19Pro Uncertain significance Single submitter
- EPDR1 p.Pro121Leu Uncertain significance Single submitter
- EPDR1 p.Pro121Thr Uncertain significance Single submitter
- EPDR1 p.Ser152Leu Uncertain significance Single submitter
- EPDR1 p.Ser202Leu Uncertain significance Single submitter
- EPDR1 p.Thr147Ile Uncertain significance Single submitter
- EPDR1 p.Tyr173Cys Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EPDR1 variants
Likely benign 1
- p.Arg8His Single submitter
Uncertain significance 29
- p.Ala109Thr Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Ala84Glu Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg190Trp Single submitter ⚠
- p.Arg75Ser Single submitter ⚠
- p.Asn73Lys Single submitter ⚠
- p.Asp107Gly Single submitter ⚠
- p.Asp70Glu Single submitter ⚠
- p.Gln112Lys Single submitter ⚠
- p.Gln136Glu Single submitter ⚠
- p.Gln145Lys Single submitter ⚠
- p.Gln176Pro Single submitter ⚠
- p.Gln47Lys Single submitter
- p.Gln52Glu Single submitter ⚠
- p.Gly141Trp Single submitter ⚠
- p.Gly60Ala Single submitter ⚠
- p.Ile127Ser Single submitter ⚠
- p.Ile139Thr Single submitter ⚠
- p.Ile186Leu Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Lys111Asn Single submitter ⚠
- p.Pro121Leu Single submitter ⚠
- p.Pro121Thr Single submitter ⚠
- p.Pro39Gln Single submitter ⚠
- p.Ser152Leu Single submitter ⚠
- p.Ser202Leu Single submitter ⚠
- p.Thr147Ile Single submitter ⚠
- p.Tyr173Cys Single submitter ⚠