PRXL2A — 37 ClinVar variants
All ClinVar germline PRXL2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Likely benign · 36 Uncertain significance
Full PRXL2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRXL2A p.Ala24Thr Uncertain significance Single submitter
- PRXL2A p.Ala44Val Uncertain significance Single submitter
- PRXL2A p.Ala93Val Uncertain significance Single submitter
- PRXL2A p.Arg146Gln Uncertain significance Single submitter
- PRXL2A p.Asn161His Uncertain significance Single submitter
- PRXL2A p.Asn173Lys Uncertain significance Single submitter
- PRXL2A p.Asn173Tyr Uncertain significance Single submitter
- PRXL2A p.Gly168Arg Uncertain significance Single submitter
- PRXL2A p.Gly168Glu Uncertain significance Single submitter
- PRXL2A p.Gly178Asp Uncertain significance Single submitter
- PRXL2A p.His198Gln Uncertain significance Single submitter
- PRXL2A p.Ile154Phe Uncertain significance Single submitter
- PRXL2A p.Ile17Met Uncertain significance Single submitter
- PRXL2A p.Leu27Phe Uncertain significance Single submitter
- PRXL2A p.Leu4Phe Uncertain significance Single submitter
- PRXL2A p.Lys201Asn Uncertain significance Single submitter
- PRXL2A p.Lys228Arg Uncertain significance Single submitter
- PRXL2A p.Lys228Glu Uncertain significance Single submitter
- PRXL2A p.Lys99Arg Uncertain significance Single submitter
- PRXL2A p.Met14Leu Uncertain significance Single submitter
- PRXL2A p.Met14Val Uncertain significance Single submitter
- PRXL2A p.Pro41Ala Uncertain significance Single submitter
- PRXL2A p.Ser171Phe Uncertain significance Single submitter
- PRXL2A p.Ser2Ala Uncertain significance Single submitter
- PRXL2A p.Val107Ile Uncertain significance Single submitter
- PRXL2A p.Val121Met Uncertain significance Single submitter
- PRXL2A p.Val186Met Uncertain significance Single submitter
- PRXL2A p.Val36Met Uncertain significance Single submitter
- PRXL2A p.Val80Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PRXL2A variants
Likely benign 1
- p.Ile154Val Single submitter
Uncertain significance 36
- p.Ala24Thr Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala93Val Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg155His Single submitter
- p.Asn161His Single submitter ⚠
- p.Asn173Lys Single submitter ⚠
- p.Asn173Tyr Single submitter ⚠
- p.Asp35Gly Single submitter
- p.Glu197Asp Single submitter ⚠
- p.Gly168Arg Single submitter ⚠
- p.Gly168Glu Single submitter ⚠
- p.Gly178Asp Single submitter ⚠
- p.Gly193Ser Single submitter ⚠
- p.His198Gln Single submitter ⚠
- p.Ile154Phe Single submitter ⚠
- p.Ile17Met Single submitter ⚠
- p.Leu27Phe Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Lys201Asn Single submitter ⚠
- p.Lys228Arg Single submitter ⚠
- p.Lys228Glu Single submitter ⚠
- p.Lys99Arg Single submitter ⚠
- p.Lys99Asn Single submitter ⚠
- p.Met14Leu Single submitter ⚠
- p.Met14Val Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Ser171Phe Single submitter ⚠
- p.Ser2Ala Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val121Met Single submitter ⚠
- p.Val158Met Single submitter ⚠
- p.Val186Met Single submitter ⚠
- p.Val36Met Single submitter ⚠
- p.Val80Leu Single submitter ⚠
- p.Val80Met Single submitter ⚠