CDK5R1 — 21 ClinVar variants
All ClinVar germline CDK5R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
4 Benign · 17 Uncertain significance
Full CDK5R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDK5R1 p.Val250Ala Uncertain significance Multiple submitters
- CDK5R1 p.Ala14Val Uncertain significance Single submitter
- CDK5R1 p.Arg179Cys Uncertain significance Single submitter
- CDK5R1 p.Asn64Asp Uncertain significance Single submitter
- CDK5R1 p.Asn77Thr Uncertain significance Single submitter
- CDK5R1 p.Cys208Phe Uncertain significance Single submitter
- CDK5R1 p.His280Gln Uncertain significance Single submitter
- CDK5R1 p.His44Pro Uncertain significance Single submitter
- CDK5R1 p.Pro107Ser Uncertain significance Single submitter
- CDK5R1 p.Ser149Asn Uncertain significance Single submitter
- CDK5R1 p.Thr119Ser Uncertain significance Single submitter
- CDK5R1 p.Thr197Met Uncertain significance Single submitter
- CDK5R1 p.Tyr164Phe Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CDK5R1 variants
Benign 4
- p.Asn266= Multiple submitters
- p.Ile143= Multiple submitters
- p.Pro70= Single submitter
- p.Lys63del No assertion criteria CDK5R1-related disorder
Uncertain significance 17
- p.Val250Ala Multiple submitters ⚠
- p.Ala14Val Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Asn64Asp Single submitter ⚠
- p.Asn77Thr Single submitter ⚠
- p.Cys208Phe Single submitter ⚠
- p.His280Gln Single submitter ⚠
- p.His44Pro Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro110Thr Single submitter ⚠
- p.Ser149Asn Single submitter ⚠
- p.Thr119Ile Single submitter ⚠
- p.Thr119Ser Single submitter ⚠
- p.Thr197Met Single submitter ⚠
- p.Tyr164Phe Single submitter ⚠
- p.Val58Gly Single submitter ⚠