PRSS48 — 57 ClinVar variants
All ClinVar germline PRSS48 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
7 Likely benign · 50 Uncertain significance
Full PRSS48 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRSS48 p.Ala171Thr Uncertain significance Single submitter
- PRSS48 p.Ala180Gly Uncertain significance Single submitter
- PRSS48 p.Ala35Thr Uncertain significance Single submitter
- PRSS48 p.Ala66Glu Uncertain significance Single submitter
- PRSS48 p.Arg178Leu Uncertain significance Single submitter
- PRSS48 p.Arg290His Uncertain significance Single submitter
- PRSS48 p.Asn254Lys Uncertain significance Single submitter
- PRSS48 p.Cys134Arg Uncertain significance Single submitter
- PRSS48 p.Gln179His Uncertain significance Single submitter
- PRSS48 p.Glu158Gly Uncertain significance Single submitter
- PRSS48 p.Gly152Arg Uncertain significance Single submitter
- PRSS48 p.Gly189Ser Uncertain significance Single submitter
- PRSS48 p.Gly315Ser Uncertain significance Single submitter
- PRSS48 p.Gly55Arg Uncertain significance Single submitter
- PRSS48 p.Gly84Arg Uncertain significance Single submitter
- PRSS48 p.Ile199Thr Uncertain significance Single submitter
- PRSS48 p.Ile313Thr Uncertain significance Single submitter
- PRSS48 p.Leu117Ser Uncertain significance Single submitter
- PRSS48 p.Leu11Pro Uncertain significance Single submitter
- PRSS48 p.Leu13Pro Uncertain significance Single submitter
- PRSS48 p.Leu192Ser Uncertain significance Single submitter
- PRSS48 p.Leu45Val Uncertain significance Single submitter
- PRSS48 p.Lys200Arg Uncertain significance Single submitter
- PRSS48 p.Met212Val Uncertain significance Single submitter
- PRSS48 p.Pro197Leu Uncertain significance Single submitter
- PRSS48 p.Pro40Thr Uncertain significance Single submitter
- PRSS48 p.Ser292Tyr Uncertain significance Single submitter
- PRSS48 p.Thr112Ala Uncertain significance Single submitter
- PRSS48 p.Tyr98Cys Uncertain significance Single submitter
- PRSS48 p.Val124Ala Uncertain significance Single submitter
- PRSS48 p.Val18Glu Uncertain significance Single submitter
- PRSS48 p.Val23Ala Uncertain significance Single submitter
- PRSS48 p.Val282Ala Uncertain significance Single submitter
- PRSS48 p.Val282Ile Uncertain significance Single submitter
- PRSS48 p.Val303Ala Uncertain significance Single submitter
- PRSS48 p.Val310Ile Uncertain significance Single submitter
- PRSS48 p.Val95Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PRSS48 p.Ala66Gly Uncertain significance Single submitter
- PRSS48 p.Arg178Cys Uncertain significance Single submitter
- PRSS48 p.Arg27Cys Uncertain significance Single submitter
- PRSS48 p.Gln42Leu Uncertain significance Single submitter
- PRSS48 p.His68Arg Uncertain significance Single submitter
- PRSS48 p.Leu118Phe Uncertain significance Single submitter
- PRSS48 p.Ser220Thr Uncertain significance Single submitter
- PRSS48 p.Ser59Gly Uncertain significance Single submitter
- PRSS48 p.Ser85Leu Uncertain significance Single submitter
- PRSS48 p.Trp153Arg Uncertain significance Single submitter
All PRSS48 variants
Likely benign 7
- p.Arg178His Single submitter
- p.Arg38His Single submitter
- p.Gly89Asp Single submitter
- p.Phe279Leu Single submitter
- p.Thr9Met Single submitter
- p.Val115Ile Single submitter
- p.Val28Ile Single submitter
Uncertain significance 50
- p.Ala171Thr Single submitter ⚠
- p.Ala180Gly Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala66Glu Single submitter ⚠
- p.Ala66Gly Single submitter ⚠
- p.Arg178Cys Single submitter ⚠
- p.Arg178Leu Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Arg290His Single submitter ⚠
- p.Asn254Lys Single submitter ⚠
- p.Cys134Arg Single submitter ⚠
- p.Cys19Tyr Single submitter
- p.Gln179His Single submitter ⚠
- p.Gln42Leu Single submitter ⚠
- p.Glu158Gly Single submitter ⚠
- p.Gly152Arg Single submitter ⚠
- p.Gly189Ser Single submitter ⚠
- p.Gly315Ser Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.Gly84Arg Single submitter ⚠
- p.His68Arg Single submitter ⚠
- p.Ile199Thr Single submitter ⚠
- p.Ile313Thr Single submitter ⚠
- p.Leu117Ser Single submitter ⚠
- p.Leu118Phe Single submitter ⚠
- p.Leu11Pro Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu168Pro Single submitter
- p.Leu192Ser Single submitter ⚠
- p.Leu45Val Single submitter ⚠
- p.Lys200Arg Single submitter ⚠
- p.Met212Val Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro40Thr Single submitter ⚠
- p.Ser220Thr Single submitter ⚠
- p.Ser292Tyr Single submitter ⚠
- p.Ser59Gly Single submitter ⚠
- p.Ser85Leu Single submitter ⚠
- p.Thr112Ala Single submitter ⚠
- p.Trp153Arg Single submitter ⚠
- p.Tyr98Cys Single submitter ⚠
- p.Val124Ala Single submitter ⚠
- p.Val18Glu Single submitter ⚠
- p.Val23Ala Single submitter ⚠
- p.Val282Ala Single submitter ⚠
- p.Val282Ile Single submitter ⚠
- p.Val303Ala Single submitter ⚠
- p.Val310Ile Single submitter ⚠
- p.Val95Met Single submitter ⚠
- p.Val43fs No assertion criteria essential tremor