Sugi Variant

Sugi Variant/PRSS1

PRSS1 — 866 ClinVar variants

All ClinVar germline PRSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 475 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 33 Conflicting · 13 Benign · 19 Benign/Likely benign · 231 Likely benign · 560 Uncertain significance

Full PRSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 475

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 vs ClinVar 7

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 22

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 352

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 352

Predictors split 94

The independent predictors disagree with each other — read with care.

All PRSS1 variants

Pathogenic 4

  • p.Arg122Cys Multiple submitters hereditary chronic pancreatitis
  • p.Asn29Ile Multiple submitters PRSS1-related disorder ⚠
  • p.Asn29Thr Multiple submitters hereditary chronic pancreatitis ⚠
  • p.Val39Ala Single submitter hereditary chronic pancreatitis ⚠

Pathogenic/Likely pathogenic 3

Likely pathogenic 3

Conflicting classifications of pathogenicity 33

Benign 13

  • c.454+16A>T Multiple submitters hereditary chronic pancreatitis
  • c.592-79G>A Multiple submitters hereditary chronic pancreatitis
  • p.Cys196= Multiple submitters hereditary chronic pancreatitis
  • p.Glu85= Multiple submitters hereditary chronic pancreatitis
  • p.Gly49Val Multiple submitters hereditary chronic pancreatitis
  • p.Val213Ile Multiple submitters hereditary chronic pancreatitis
  • c.200+17del Single submitter hereditary chronic pancreatitis
  • c.41-45del Single submitter
  • c.41-49C>T Single submitter hereditary chronic pancreatitis
  • p.Asn246= Single submitter hereditary chronic pancreatitis
  • p.Cys206Ser Single submitter hereditary chronic pancreatitis ⚠
  • p.Gln209Glu Single submitter hereditary chronic pancreatitis
  • p.Ser195= Single submitter hereditary chronic pancreatitis

Benign/Likely benign 19

  • c.200+17C>T Multiple submitters hereditary chronic pancreatitis
  • c.40+10A>G Multiple submitters hereditary chronic pancreatitis
  • c.40+13C>T Multiple submitters hereditary chronic pancreatitis
  • c.40+40del Multiple submitters hereditary chronic pancreatitis
  • c.592-11C>T Multiple submitters hereditary chronic pancreatitis
  • c.592-24C>T Multiple submitters hereditary chronic pancreatitis
  • c.592-3dup Multiple submitters hereditary chronic pancreatitis
  • c.592-8C>T Multiple submitters hereditary chronic pancreatitis
  • c.-30_-28delTCC Multiple submitters hereditary chronic pancreatitis
  • p.Asn246= Multiple submitters hereditary chronic pancreatitis
  • p.Asp156= Multiple submitters hereditary chronic pancreatitis
  • p.Asp162= Multiple submitters hereditary chronic pancreatitis
  • p.Cys139= Multiple submitters hereditary chronic pancreatitis
  • p.Gln98Lys Multiple submitters hereditary chronic pancreatitis
  • p.Gly217= Multiple submitters hereditary chronic pancreatitis
  • p.Ile93= Multiple submitters hereditary chronic pancreatitis
  • p.Leu189= Multiple submitters hereditary chronic pancreatitis
  • p.Pro17Ser Multiple submitters hereditary chronic pancreatitis
  • p.Thr130= Multiple submitters hereditary chronic pancreatitis

Likely benign 231

  • c.200+10G>T Multiple submitters hereditary chronic pancreatitis
  • c.200+18G>A Multiple submitters hereditary chronic pancreatitis
  • c.200+8T>C Multiple submitters hereditary chronic pancreatitis
  • c.40+15C>T Multiple submitters hereditary chronic pancreatitis
  • c.40+34C>T Multiple submitters
  • c.454+19C>A Multiple submitters hereditary chronic pancreatitis
  • c.454+7G>A Multiple submitters hereditary chronic pancreatitis
  • c.591+8G>C Multiple submitters hereditary chronic pancreatitis
  • p.Ala117= Multiple submitters hereditary chronic pancreatitis
  • p.Ala148= Multiple submitters hereditary chronic pancreatitis
  • p.Ala152= Multiple submitters hereditary chronic pancreatitis
  • p.Ala245= Multiple submitters hereditary chronic pancreatitis
  • p.Ala90= Multiple submitters hereditary chronic pancreatitis
  • p.Arg95= Multiple submitters hereditary chronic pancreatitis
  • p.Asn120= Multiple submitters hereditary chronic pancreatitis
  • p.Asn207= Multiple submitters hereditary chronic pancreatitis
  • p.Asn224= Multiple submitters hereditary chronic pancreatitis
  • p.Asn29= Multiple submitters hereditary chronic pancreatitis
  • p.Asn54= Multiple submitters hereditary chronic pancreatitis
  • p.Asn84= Multiple submitters hereditary chronic pancreatitis
  • p.Asn89= Multiple submitters hereditary chronic pancreatitis
  • p.Asp100= Multiple submitters hereditary chronic pancreatitis
  • p.Asp194= Multiple submitters hereditary chronic pancreatitis
  • p.Glu190= Multiple submitters hereditary chronic pancreatitis
  • p.Glu31= Multiple submitters hereditary chronic pancreatitis
  • p.Gly227= Multiple submitters hereditary chronic pancreatitis
  • p.Gly27= Multiple submitters hereditary chronic pancreatitis
  • p.Gly62= Multiple submitters hereditary chronic pancreatitis
  • p.His46= Multiple submitters hereditary chronic pancreatitis
  • p.His96= Multiple submitters hereditary chronic pancreatitis
  • p.Ile78= Multiple submitters hereditary chronic pancreatitis
  • p.Leu110= Multiple submitters hereditary chronic pancreatitis
  • p.Leu128= Multiple submitters hereditary chronic pancreatitis
  • p.Leu166= Multiple submitters hereditary chronic pancreatitis
  • p.Leu210= Multiple submitters hereditary chronic pancreatitis
  • p.Leu52= Multiple submitters hereditary chronic pancreatitis
  • p.Leu81= Multiple submitters hereditary chronic pancreatitis
  • p.Lys138= Multiple submitters hereditary chronic pancreatitis
  • p.Lys170= Multiple submitters hereditary chronic pancreatitis
  • p.Lys178= Multiple submitters hereditary chronic pancreatitis
  • p.Lys193= Multiple submitters hereditary chronic pancreatitis
  • p.Lys231= Multiple submitters hereditary chronic pancreatitis
  • p.Phe184= Multiple submitters hereditary chronic pancreatitis
  • p.Pro17= Multiple submitters hereditary chronic pancreatitis
  • p.Pro3= Multiple submitters hereditary chronic pancreatitis
  • p.Pro97= Multiple submitters hereditary chronic pancreatitis
  • p.Ser142= Multiple submitters hereditary chronic pancreatitis
  • p.Ser149= Multiple submitters hereditary chronic pancreatitis
  • p.Ser174= Multiple submitters hereditary chronic pancreatitis
  • p.Ser215= Multiple submitters hereditary chronic pancreatitis
  • p.Ser43= Multiple submitters hereditary chronic pancreatitis
  • p.Ser51= Multiple submitters hereditary chronic pancreatitis
  • p.Ter248= Multiple submitters hereditary chronic pancreatitis
  • p.Thr125= Multiple submitters hereditary chronic pancreatitis
  • p.Thr137= Multiple submitters hereditary chronic pancreatitis
  • p.Thr137= Multiple submitters hereditary chronic pancreatitis
  • p.Thr242= Multiple submitters hereditary chronic pancreatitis
  • p.Tyr154= Multiple submitters hereditary chronic pancreatitis
  • p.Tyr235= Multiple submitters hereditary chronic pancreatitis
  • p.Tyr65= Multiple submitters hereditary chronic pancreatitis
  • p.Tyr99= Multiple submitters hereditary chronic pancreatitis
  • p.Val10= Multiple submitters hereditary chronic pancreatitis
  • p.Val118= Multiple submitters hereditary chronic pancreatitis
  • p.Val204= Multiple submitters hereditary chronic pancreatitis
  • p.Val205= Multiple submitters hereditary chronic pancreatitis
  • p.Val214= Multiple submitters hereditary chronic pancreatitis
  • p.Val59= Multiple submitters hereditary chronic pancreatitis
  • p.Val80= Multiple submitters hereditary chronic pancreatitis
  • c.200+17_200+18delinsGA Single submitter hereditary chronic pancreatitis
  • c.200+20C>T Single submitter hereditary chronic pancreatitis
  • c.200+23C>T Single submitter
  • c.200+55T>A Single submitter
  • c.200+7G>A Single submitter hereditary chronic pancreatitis
  • c.200+9G>A Single submitter hereditary chronic pancreatitis
  • c.201-12C>T Single submitter hereditary chronic pancreatitis
  • c.201-16C>G Single submitter hereditary chronic pancreatitis
  • c.201-37G>T Single submitter
  • c.201-8C>T Single submitter hereditary chronic pancreatitis
  • c.40+13C>A Single submitter hereditary chronic pancreatitis
  • c.40+15C>G Single submitter hereditary chronic pancreatitis
  • c.40+16T>C Single submitter hereditary chronic pancreatitis
  • c.40+18C>A Single submitter hereditary chronic pancreatitis
  • c.40+36C>G Single submitter
  • c.40+40C>T Single submitter
  • c.41-14C>A Single submitter hereditary chronic pancreatitis
  • c.41-14C>T Single submitter hereditary chronic pancreatitis
  • c.41-4C>T Single submitter hereditary chronic pancreatitis
  • c.41-9C>G Single submitter hereditary chronic pancreatitis
  • c.454+13C>T Single submitter hereditary chronic pancreatitis
  • c.454+157C>G Single submitter hereditary chronic pancreatitis
  • c.454+16A>G Single submitter hereditary chronic pancreatitis
  • c.454+36T>C Single submitter hereditary chronic pancreatitis
  • c.455-14C>T Single submitter hereditary chronic pancreatitis
  • c.455-6T>G Single submitter hereditary chronic pancreatitis
  • c.591+12_591+14del Single submitter hereditary chronic pancreatitis
  • c.591+9A>C Single submitter hereditary chronic pancreatitis
  • c.592-14C>G Single submitter hereditary chronic pancreatitis
  • c.592-17T>G Single submitter hereditary chronic pancreatitis
  • c.592-4C>T Single submitter hereditary chronic pancreatitis
  • c.592-5C>T Single submitter hereditary chronic pancreatitis
  • c.592-7C>T Single submitter hereditary chronic pancreatitis
  • c.592-8C>A Single submitter hereditary chronic pancreatitis
  • c.592-9T>C Single submitter
  • p.Ala11Gly Single submitter hereditary chronic pancreatitis
  • p.Ala121= Single submitter hereditary chronic pancreatitis
  • p.Ala134= Single submitter hereditary chronic pancreatitis
  • p.Ala15= Single submitter hereditary chronic pancreatitis
  • p.Ala152Val Single submitter hereditary chronic pancreatitis
  • p.Ala16= Single submitter hereditary chronic pancreatitis
  • p.Ala16= Single submitter hereditary chronic pancreatitis
  • p.Ala173= Single submitter hereditary chronic pancreatitis
  • p.Ala221= Single submitter hereditary chronic pancreatitis
  • p.Ala245= Single submitter hereditary chronic pancreatitis
  • p.Arg101= Single submitter hereditary chronic pancreatitis
  • p.Arg116= Single submitter hereditary chronic pancreatitis
  • p.Arg122= Single submitter hereditary chronic pancreatitis
  • p.Arg68= Single submitter hereditary chronic pancreatitis
  • p.Asn105= Single submitter hereditary chronic pancreatitis
  • p.Asn146= Single submitter hereditary chronic pancreatitis
  • p.Asn2= Single submitter hereditary chronic pancreatitis
  • p.Asn241= Single submitter hereditary chronic pancreatitis
  • p.Asn77= Single submitter hereditary chronic pancreatitis
  • p.Asp107= Single submitter hereditary chronic pancreatitis
  • p.Asp153= Single submitter hereditary chronic pancreatitis
  • p.Asp156Glu Single submitter hereditary chronic pancreatitis
  • p.Asp199= Single submitter hereditary chronic pancreatitis
  • p.Asp20= Single submitter hereditary chronic pancreatitis
  • p.Asp21= Single submitter hereditary chronic pancreatitis
  • p.Asp218= Single submitter hereditary chronic pancreatitis
  • p.Asp218Tyr Single submitter hereditary chronic pancreatitis
  • p.Cys160= Single submitter hereditary chronic pancreatitis
  • p.Cys185= Single submitter hereditary chronic pancreatitis
  • p.Cys48= Single submitter hereditary chronic pancreatitis
  • p.Cys64= Single submitter hereditary chronic pancreatitis
  • p.Gln159= Single submitter hereditary chronic pancreatitis
  • p.Gln168= Single submitter hereditary chronic pancreatitis
  • p.Gln209= Single submitter hereditary chronic pancreatitis
  • p.Gln211= Single submitter hereditary chronic pancreatitis
  • p.Gln222= Single submitter hereditary chronic pancreatitis
  • p.Gln38= Single submitter hereditary chronic pancreatitis
  • p.Gln98= Single submitter hereditary chronic pancreatitis
  • p.Glu157= Single submitter hereditary chronic pancreatitis
  • p.Glu75= Single submitter hereditary chronic pancreatitis
  • p.Glu82= Single submitter hereditary chronic pancreatitis
  • p.Gly151= Single submitter hereditary chronic pancreatitis
  • p.Gly177= Single submitter hereditary chronic pancreatitis
  • p.Gly191= Single submitter hereditary chronic pancreatitis
  • p.Gly212= Single submitter hereditary chronic pancreatitis
  • p.Gly219= Single submitter hereditary chronic pancreatitis
  • p.Gly219= Single submitter hereditary chronic pancreatitis
  • p.Gly26= Single submitter hereditary chronic pancreatitis
  • p.Gly44= Single submitter hereditary chronic pancreatitis
  • p.Gly50= Single submitter hereditary chronic pancreatitis
  • p.Gly62= Single submitter hereditary chronic pancreatitis
  • p.Gly62Ala Single submitter
  • p.Gly74= Single submitter hereditary chronic pancreatitis
  • p.Gly83= Single submitter hereditary chronic pancreatitis
  • p.Ile119= Single submitter hereditary chronic pancreatitis
  • p.Ile126= Single submitter hereditary chronic pancreatitis
  • p.Ile126= Single submitter hereditary chronic pancreatitis
  • p.Ile141= Single submitter hereditary chronic pancreatitis
  • p.Ile239= Single submitter hereditary chronic pancreatitis
  • p.Ile24= Single submitter hereditary chronic pancreatitis
  • p.Ile6= Single submitter hereditary chronic pancreatitis
  • p.Leu104= Single submitter hereditary chronic pancreatitis
  • p.Leu113= Single submitter hereditary chronic pancreatitis
  • p.Leu140= Single submitter hereditary chronic pancreatitis
  • p.Leu158= Single submitter hereditary chronic pancreatitis
  • p.Leu158= Single submitter hereditary chronic pancreatitis
  • p.Leu161= Single submitter hereditary chronic pancreatitis
  • p.Leu166= Single submitter hereditary chronic pancreatitis
  • p.Leu4= Single submitter hereditary chronic pancreatitis
  • p.Leu41= Single submitter hereditary chronic pancreatitis
  • p.Leu41= Single submitter hereditary chronic pancreatitis
  • p.Leu5= Single submitter hereditary chronic pancreatitis
  • p.Leu5= Single submitter hereditary chronic pancreatitis
  • p.Leu7= Single submitter hereditary chronic pancreatitis
  • p.Leu73= Single submitter hereditary chronic pancreatitis
  • p.Leu73= Single submitter hereditary chronic pancreatitis
  • p.Lys138Glu Single submitter hereditary chronic pancreatitis
  • p.Lys223= Single submitter hereditary chronic pancreatitis
  • p.Lys225= Single submitter hereditary chronic pancreatitis
  • p.Lys23= Single submitter hereditary chronic pancreatitis
  • p.Lys237= Single submitter hereditary chronic pancreatitis
  • p.Lys92= Single submitter hereditary chronic pancreatitis
  • p.Phe18= Single submitter hereditary chronic pancreatitis
  • p.Phe47= Single submitter hereditary chronic pancreatitis
  • p.Phe87= Single submitter hereditary chronic pancreatitis
  • p.Phe9= Single submitter hereditary chronic pancreatitis
  • p.Pro129= Single submitter hereditary chronic pancreatitis
  • p.Pro132= Single submitter hereditary chronic pancreatitis
  • p.Pro155= Single submitter hereditary chronic pancreatitis
  • p.Pro164= Single submitter hereditary chronic pancreatitis
  • p.Pro176= Single submitter hereditary chronic pancreatitis
  • p.Pro203= Single submitter hereditary chronic pancreatitis
  • p.Pro36= Single submitter hereditary chronic pancreatitis
  • p.Pro36= Single submitter hereditary chronic pancreatitis
  • p.Pro97= Single submitter hereditary chronic pancreatitis
  • p.Ser115= Single submitter hereditary chronic pancreatitis
  • p.Ser124= Single submitter hereditary chronic pancreatitis
  • p.Ser124= Single submitter hereditary chronic pancreatitis
  • p.Ser127= Single submitter hereditary chronic pancreatitis
  • p.Ser40= Single submitter hereditary chronic pancreatitis
  • p.Ser43Ala Single submitter hereditary chronic pancreatitis
  • p.Ser60= Single submitter hereditary chronic pancreatitis
  • p.Ser67= Single submitter hereditary chronic pancreatitis
  • p.Thr135Ala Single submitter hereditary chronic pancreatitis
  • p.Thr135Pro Single submitter hereditary chronic pancreatitis
  • p.Thr147= Single submitter hereditary chronic pancreatitis
  • p.Thr180= Single submitter hereditary chronic pancreatitis
  • p.Thr180= Single submitter hereditary chronic pancreatitis
  • p.Thr230= Single submitter hereditary chronic pancreatitis
  • p.Thr242= Single submitter hereditary chronic pancreatitis
  • p.Thr8= Single submitter hereditary chronic pancreatitis
  • p.Thr8= Single submitter hereditary chronic pancreatitis
  • p.Thr8Ala Single submitter hereditary chronic pancreatitis
  • p.Tyr175= Single submitter hereditary chronic pancreatitis
  • p.Tyr229= Single submitter hereditary chronic pancreatitis
  • p.Tyr233= Single submitter hereditary chronic pancreatitis
  • p.Tyr233Cys Single submitter hereditary chronic pancreatitis
  • p.Tyr28= Single submitter hereditary chronic pancreatitis
  • p.Tyr37= Single submitter hereditary chronic pancreatitis
  • p.Val123= Single submitter hereditary chronic pancreatitis
  • p.Val186Ala Single submitter hereditary chronic pancreatitis
  • p.Val236= Single submitter hereditary chronic pancreatitis
  • p.Val25= Single submitter hereditary chronic pancreatitis
  • p.Val35= Single submitter hereditary chronic pancreatitis
  • p.Val35= Single submitter hereditary chronic pancreatitis
  • p.Val59= Single submitter hereditary chronic pancreatitis
  • c.41-215G>A No assertion criteria hereditary neoplastic syndrome
  • p.Ser115Thr No assertion criteria hereditary chronic pancreatitis

Uncertain significance 560

Showing the top 300 by review status; the full set is in the sitemap.