ENPEP — 135 ClinVar variants
All ClinVar germline ENPEP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
5 Benign · 2 Likely benign · 128 Uncertain significance
Full ENPEP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENPEP p.Ala173Glu Uncertain significance Single submitter
- ENPEP p.Ala241Ser Uncertain significance Single submitter
- ENPEP p.Ala262Ser Uncertain significance Single submitter
- ENPEP p.Ala262Val Uncertain significance Single submitter
- ENPEP p.Ala290Ser Uncertain significance Single submitter
- ENPEP p.Ala338Val Uncertain significance Single submitter
- ENPEP p.Ala662Asp Uncertain significance Single submitter
- ENPEP p.Ala662Val Uncertain significance Single submitter
- ENPEP p.Ala698Ser Uncertain significance Single submitter
- ENPEP p.Ala72Thr Uncertain significance Single submitter
- ENPEP p.Arg137Trp Uncertain significance Single submitter
- ENPEP p.Arg140Gly Uncertain significance Single submitter
- ENPEP p.Arg140Lys Uncertain significance Single submitter
- ENPEP p.Arg273Gln Uncertain significance Single submitter
- ENPEP p.Arg437Ser Uncertain significance Single submitter
- ENPEP p.Arg540Thr Uncertain significance Single submitter
- ENPEP p.Arg559Ser Uncertain significance Single submitter
- ENPEP p.Arg598Gly Uncertain significance Single submitter
- ENPEP p.Arg628Cys Uncertain significance Single submitter
- ENPEP p.Arg655His Uncertain significance Single submitter
- ENPEP p.Arg745Gly Uncertain significance Single submitter
- ENPEP p.Arg891Gln Uncertain significance Single submitter
- ENPEP p.Arg891Leu Uncertain significance Single submitter
- ENPEP p.Asn550Lys Uncertain significance Single submitter
- ENPEP p.Asn607Lys Uncertain significance Single submitter
- ENPEP p.Asn762Asp Uncertain significance Single submitter
- ENPEP p.Asn828Asp Uncertain significance Single submitter
- ENPEP p.Asn885Ser Uncertain significance Single submitter
- ENPEP p.Asn944Tyr Uncertain significance Single submitter
- ENPEP p.Asp411Ala Uncertain significance Single submitter
- ENPEP p.Asp44Asn Uncertain significance Single submitter
- ENPEP p.Asp876Val Uncertain significance Single submitter
- ENPEP p.Cys13Arg Uncertain significance Single submitter
- ENPEP p.Cys13Gly Uncertain significance Single submitter
- ENPEP p.Cys233Ser Uncertain significance Single submitter
- ENPEP p.Gln721His Uncertain significance Single submitter
- ENPEP p.Gln770Arg Uncertain significance Single submitter
- ENPEP p.Gln808Arg Uncertain significance Single submitter
- ENPEP p.Gln848Arg Uncertain significance Single submitter
- ENPEP p.Gln917Lys Uncertain significance Single submitter
- ENPEP p.Glu174Gly Uncertain significance Single submitter
- ENPEP p.Glu394Lys Uncertain significance Single submitter
- ENPEP p.Glu707Gln Uncertain significance Single submitter
- ENPEP p.Gly182Arg Uncertain significance Single submitter
- ENPEP p.Gly194Asp Uncertain significance Single submitter
- ENPEP p.Gly30Arg Uncertain significance Single submitter
- ENPEP p.Gly417Arg Uncertain significance Single submitter
- ENPEP p.Gly47Glu Uncertain significance Single submitter
- ENPEP p.Gly551Ser Uncertain significance Single submitter
- ENPEP p.Gly957Ser Uncertain significance Single submitter
- ENPEP p.His397Pro Uncertain significance Single submitter
- ENPEP p.Ile247Val Uncertain significance Single submitter
- ENPEP p.Ile403Thr Uncertain significance Single submitter
- ENPEP p.Ile604Val Uncertain significance Single submitter
- ENPEP p.Ile624Val Uncertain significance Single submitter
- ENPEP p.Leu109Met Uncertain significance Single submitter
- ENPEP p.Leu144Val Uncertain significance Single submitter
- ENPEP p.Leu343Pro Uncertain significance Single submitter
- ENPEP p.Leu425Val Uncertain significance Single submitter
- ENPEP p.Leu454Ser Uncertain significance Single submitter
- ENPEP p.Leu454Val Uncertain significance Single submitter
- ENPEP p.Leu683Ile Uncertain significance Single submitter
- ENPEP p.Leu744Pro Uncertain significance Single submitter
- ENPEP p.Leu939Val Uncertain significance Single submitter
- ENPEP p.Lys165Asn Uncertain significance Single submitter
- ENPEP p.Lys316Asn Uncertain significance Single submitter
- ENPEP p.Lys512Asn Uncertain significance Single submitter
- ENPEP p.Lys648Arg Uncertain significance Single submitter
- ENPEP p.Met190Thr Uncertain significance Single submitter
- ENPEP p.Met440Ile Uncertain significance Single submitter
- ENPEP p.Met488Val Uncertain significance Single submitter
- ENPEP p.Phe474Ser Uncertain significance Single submitter
- ENPEP p.Pro281Arg Uncertain significance Single submitter
- ENPEP p.Pro467Ser Uncertain significance Single submitter
- ENPEP p.Pro51Leu Uncertain significance Single submitter
- ENPEP p.Pro545Ala Uncertain significance Single submitter
- ENPEP p.Pro99Gln Uncertain significance Single submitter
- ENPEP p.Ser120Asn Uncertain significance Single submitter
- ENPEP p.Ser457Leu Uncertain significance Single submitter
- ENPEP p.Ser592Asn Uncertain significance Single submitter
- ENPEP p.Thr284Met Uncertain significance Single submitter
- ENPEP p.Thr389Ala Uncertain significance Single submitter
- ENPEP p.Thr700Asn Uncertain significance Single submitter
- ENPEP p.Thr775Asn Uncertain significance Single submitter
- ENPEP p.Trp538Cys Uncertain significance Single submitter
- ENPEP p.Trp585Arg Uncertain significance Single submitter
- ENPEP p.Trp636Gly Uncertain significance Single submitter
- ENPEP p.Trp949Cys Uncertain significance Single submitter
- ENPEP p.Tyr367His Uncertain significance Single submitter
- ENPEP p.Tyr802Cys Uncertain significance Single submitter
- ENPEP p.Val169Met Uncertain significance Single submitter
- ENPEP p.Val291Leu Uncertain significance Single submitter
- ENPEP p.Val427Ile Uncertain significance Single submitter
- ENPEP p.Val531Ala Uncertain significance Single submitter
- ENPEP p.Val549Met Uncertain significance Single submitter
- ENPEP p.Val879Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ENPEP p.Ala350Thr Uncertain significance Single submitter
- ENPEP p.Ala668Thr Uncertain significance Single submitter
- ENPEP p.Arg143Trp Uncertain significance Single submitter
- ENPEP p.Arg386Lys Uncertain significance Single submitter
- ENPEP p.Arg559Pro Uncertain significance Single submitter
- ENPEP p.Arg834Trp Uncertain significance Single submitter
- ENPEP p.Asn383Asp Uncertain significance Single submitter
- ENPEP p.Asn763Asp Uncertain significance Single submitter
- ENPEP p.Asn874His Uncertain significance Single submitter
- ENPEP p.Asp757Gly Uncertain significance Single submitter
- ENPEP p.Asp95Tyr Uncertain significance Single submitter
- ENPEP p.Glu320Lys Uncertain significance Single submitter
- ENPEP p.Gly30Glu Uncertain significance Single submitter
- ENPEP p.His623Arg Uncertain significance Single submitter
- ENPEP p.Leu35Phe Uncertain significance Single submitter
- ENPEP p.Met359Thr Uncertain significance Single submitter
- ENPEP p.Ser199Phe Uncertain significance Single submitter
- ENPEP p.Ser483Tyr Uncertain significance Single submitter
- ENPEP p.Ser956Cys Uncertain significance Single submitter
- ENPEP p.Thr842Met Uncertain significance Single submitter
- ENPEP p.Tyr673Cys Uncertain significance Single submitter
All ENPEP variants
Benign 5
- p.Ala36= Multiple submitters
- p.Gln398= Multiple submitters
- p.Ile32Val Multiple submitters
- p.Ser861Arg Multiple submitters
- p.Tyr544Phe Multiple submitters
Likely benign 2
- p.Val214Ile Single submitter
- p.Val699Ile Single submitter
Uncertain significance 128
- p.Ala173Glu Single submitter ⚠
- p.Ala241Ser Single submitter ⚠
- p.Ala262Ser Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala290Ser Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Ala430Glu Single submitter
- p.Ala662Asp Single submitter ⚠
- p.Ala662Val Single submitter ⚠
- p.Ala668Thr Single submitter ⚠
- p.Ala698Ser Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg140Lys Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg386Lys Single submitter ⚠
- p.Arg437Ser Single submitter ⚠
- p.Arg540Thr Single submitter ⚠
- p.Arg559Cys Single submitter
- p.Arg559Pro Single submitter ⚠
- p.Arg559Ser Single submitter ⚠
- p.Arg598Gly Single submitter ⚠
- p.Arg628Cys Single submitter ⚠
- p.Arg628His Single submitter
- p.Arg655His Single submitter ⚠
- p.Arg745Gly Single submitter ⚠
- p.Arg834Trp Single submitter ⚠
- p.Arg855Ter Single submitter
- p.Arg891Gln Single submitter ⚠
- p.Arg891Leu Single submitter ⚠
- p.Arg891Ter Single submitter autism
- p.Asn258Ser Single submitter
- p.Asn383Asp Single submitter ⚠
- p.Asn550Lys Single submitter ⚠
- p.Asn607Lys Single submitter ⚠
- p.Asn762Asp Single submitter ⚠
- p.Asn763Asp Single submitter ⚠
- p.Asn828Asp Single submitter ⚠
- p.Asn874His Single submitter ⚠
- p.Asn885Ser Single submitter ⚠
- p.Asn944Tyr Single submitter ⚠
- p.Asp411Ala Single submitter ⚠
- p.Asp44Asn Single submitter ⚠
- p.Asp757Gly Single submitter ⚠
- p.Asp876Val Single submitter ⚠
- p.Asp95Tyr Single submitter ⚠
- p.Cys13Arg Single submitter ⚠
- p.Cys13Gly Single submitter ⚠
- p.Cys233Ser Single submitter ⚠
- p.Gln721His Single submitter ⚠
- p.Gln770Arg Single submitter ⚠
- p.Gln808Arg Single submitter ⚠
- p.Gln848Arg Single submitter ⚠
- p.Gln917Lys Single submitter ⚠
- p.Glu174Gly Single submitter ⚠
- p.Glu320Lys Single submitter ⚠
- p.Glu394Lys Single submitter ⚠
- p.Glu707Gln Single submitter ⚠
- p.Gly182Arg Single submitter ⚠
- p.Gly194Asp Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.Gly30Glu Single submitter ⚠
- p.Gly417Arg Single submitter ⚠
- p.Gly47Glu Single submitter ⚠
- p.Gly551Ser Single submitter ⚠
- p.Gly957Ser Single submitter ⚠
- p.His397Pro Single submitter ⚠
- p.His623Arg Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile403Thr Single submitter ⚠
- p.Ile581Met Single submitter
- p.Ile604Val Single submitter ⚠
- p.Ile624Val Single submitter ⚠
- p.Leu109Met Single submitter ⚠
- p.Leu144Val Single submitter ⚠
- p.Leu343Pro Single submitter ⚠
- p.Leu35Phe Single submitter ⚠
- p.Leu425Val Single submitter ⚠
- p.Leu454Ser Single submitter ⚠
- p.Leu454Val Single submitter ⚠
- p.Leu683Ile Single submitter ⚠
- p.Leu744Pro Single submitter ⚠
- p.Leu939Val Single submitter ⚠
- p.Lys165Asn Single submitter ⚠
- p.Lys316Asn Single submitter ⚠
- p.Lys512Asn Single submitter ⚠
- p.Lys648Arg Single submitter ⚠
- p.Met190Thr Single submitter ⚠
- p.Met359Thr Single submitter ⚠
- p.Met440Ile Single submitter ⚠
- p.Met488Val Single submitter ⚠
- p.Phe474Ser Single submitter ⚠
- p.Pro281Arg Single submitter ⚠
- p.Pro467Ser Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro545Ala Single submitter ⚠
- p.Pro99Gln Single submitter ⚠
- p.Ser120Asn Single submitter ⚠
- p.Ser199Phe Single submitter ⚠
- p.Ser457Leu Single submitter ⚠
- p.Ser483Tyr Single submitter ⚠
- p.Ser592Asn Single submitter ⚠
- p.Ser956Cys Single submitter ⚠
- p.Thr242Ile Single submitter
- p.Thr284Met Single submitter ⚠
- p.Thr389Ala Single submitter ⚠
- p.Thr700Asn Single submitter ⚠
- p.Thr775Asn Single submitter ⚠
- p.Thr842Met Single submitter ⚠
- p.Trp538Cys Single submitter ⚠
- p.Trp585Arg Single submitter ⚠
- p.Trp636Gly Single submitter ⚠
- p.Trp949Cys Single submitter ⚠
- p.Tyr186Cys Single submitter
- p.Tyr367His Single submitter ⚠
- p.Tyr673Cys Single submitter ⚠
- p.Tyr802Cys Single submitter ⚠
- p.Tyr821Cys Single submitter
- p.Val119Met Single submitter
- p.Val169Met Single submitter ⚠
- p.Val291Leu Single submitter ⚠
- p.Val427Ile Single submitter ⚠
- p.Val531Ala Single submitter ⚠
- p.Val549Met Single submitter ⚠
- p.Val879Ile Single submitter ⚠