CPSF4L — 27 ClinVar variants
All ClinVar germline CPSF4L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Likely benign · 26 Uncertain significance
Full CPSF4L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPSF4L p.Arg145Lys Uncertain significance Single submitter
- CPSF4L p.Arg169Gln Uncertain significance Single submitter
- CPSF4L p.Asp18Val Uncertain significance Single submitter
- CPSF4L p.Gln163Pro Uncertain significance Single submitter
- CPSF4L p.Glu50Ala Uncertain significance Single submitter
- CPSF4L p.His59Tyr Uncertain significance Single submitter
- CPSF4L p.Met147Ile Uncertain significance Single submitter
- CPSF4L p.Phe84Leu Uncertain significance Single submitter
- CPSF4L p.Thr25Asn Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CPSF4L p.Arg58Gln Uncertain significance Single submitter
- CPSF4L p.Arg61Gln Uncertain significance Single submitter
- CPSF4L p.Arg73Gln Uncertain significance Single submitter
- CPSF4L p.Glu63Ala Uncertain significance Single submitter
- CPSF4L p.Glu63Gly Uncertain significance Single submitter
- CPSF4L p.Gly159Ala Uncertain significance Single submitter
- CPSF4L p.Gly26Glu Uncertain significance Single submitter
- CPSF4L p.His142Tyr Uncertain significance Single submitter
- CPSF4L p.Leu48Phe Uncertain significance Single submitter
- CPSF4L p.Lys108Asn Uncertain significance Single submitter
- CPSF4L p.Lys120Asn Uncertain significance Single submitter
- CPSF4L p.Phe44Val Uncertain significance Single submitter
- CPSF4L p.Pro125Leu Uncertain significance Single submitter
- CPSF4L p.Pro56Ala Uncertain significance Single submitter
- CPSF4L p.Ser111Cys Uncertain significance Single submitter
- CPSF4L p.Thr25Pro Uncertain significance Single submitter
- CPSF4L p.Tyr88Cys Likely benign Single submitter
- CPSF4L p.Val40Leu Uncertain significance Single submitter
All CPSF4L variants
Likely benign 1
- p.Tyr88Cys Single submitter ⚠
Uncertain significance 26
- p.Arg145Lys Single submitter ⚠
- p.Arg169Gln Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Asp18Val Single submitter ⚠
- p.Gln163Pro Single submitter ⚠
- p.Glu50Ala Single submitter ⚠
- p.Glu63Ala Single submitter ⚠
- p.Glu63Gly Single submitter ⚠
- p.Gly159Ala Single submitter ⚠
- p.Gly26Glu Single submitter ⚠
- p.His142Tyr Single submitter ⚠
- p.His59Tyr Single submitter ⚠
- p.Leu48Phe Single submitter ⚠
- p.Lys108Asn Single submitter ⚠
- p.Lys120Asn Single submitter ⚠
- p.Met147Ile Single submitter ⚠
- p.Phe44Val Single submitter ⚠
- p.Phe84Leu Single submitter ⚠
- p.Pro125Leu Single submitter ⚠
- p.Pro56Ala Single submitter ⚠
- p.Ser111Cys Single submitter ⚠
- p.Thr25Asn Single submitter ⚠
- p.Thr25Pro Single submitter ⚠
- p.Val40Leu Single submitter ⚠