KLK1 — 38 ClinVar variants
All ClinVar germline KLK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign · 1 Benign/Likely benign · 3 Likely benign · 33 Uncertain significance
Full KLK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KLK1 p.Ala244Ser Uncertain significance Single submitter
- KLK1 p.Ala244Val Uncertain significance Single submitter
- KLK1 p.Ala87Thr Uncertain significance Single submitter
- KLK1 p.Arg111Cys Uncertain significance Single submitter
- KLK1 p.Arg57His Uncertain significance Single submitter
- KLK1 p.Asp195Gly Uncertain significance Single submitter
- KLK1 p.Asp69Asn Uncertain significance Single submitter
- KLK1 p.Glu115Lys Uncertain significance Single submitter
- KLK1 p.Glu128Lys Uncertain significance Single submitter
- KLK1 p.Glu128Val Uncertain significance Single submitter
- KLK1 p.Glu148Lys Uncertain significance Single submitter
- KLK1 p.Gly100Asp Uncertain significance Single submitter
- KLK1 p.Gly201Arg Uncertain significance Single submitter
- KLK1 p.Gly28Ser Uncertain significance Single submitter
- KLK1 p.Ile21Thr Uncertain significance Single submitter
- KLK1 p.Ile67Val Uncertain significance Single submitter
- KLK1 p.Leu105Arg Uncertain significance Single submitter
- KLK1 p.Leu12Pro Uncertain significance Single submitter
- KLK1 p.Phe196Tyr Uncertain significance Single submitter
- KLK1 p.Phe96Leu Uncertain significance Single submitter
- KLK1 p.Pro129Leu Uncertain significance Single submitter
- KLK1 p.Pro19Thr Uncertain significance Single submitter
- KLK1 p.Pro20Arg Uncertain significance Single submitter
- KLK1 p.Val137Ala Uncertain significance Single submitter
- KLK1 p.Val245Ile Uncertain significance Single submitter
- KLK1 p.Val55Leu Uncertain significance Single submitter
- KLK1 p.Val90Phe Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All KLK1 variants
Benign 1
- p.Leu8= Single submitter
Benign/Likely benign 1
- p.His189= Multiple submitters
Likely benign 3
- p.Ala40Val Single submitter
- p.Asp195Glu Single submitter
- p.Glu255Lys Single submitter
Uncertain significance 33
- p.Ala244Ser Single submitter ⚠
- p.Ala244Val Single submitter ⚠
- p.Ala87Thr Single submitter ⚠
- p.Arg111Cys Single submitter ⚠
- p.Arg24Gln Single submitter
- p.Arg57His Single submitter ⚠
- p.Asp195Gly Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu128Val Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Gly100Asp Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.His189Arg Single submitter ⚠
- p.Ile21Thr Single submitter ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu105Arg Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Phe196Tyr Single submitter ⚠
- p.Phe96Leu Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro19Thr Single submitter ⚠
- p.Pro20Arg Single submitter ⚠
- p.Ser118Arg Single submitter ⚠
- p.Ser118Gly Single submitter
- p.Ser35Phe Single submitter ⚠
- p.Val137Ala Single submitter ⚠
- p.Val245Ile Single submitter ⚠
- p.Val55Leu Single submitter ⚠
- p.Val55Met Single submitter ⚠
- p.Val90Phe Single submitter ⚠