CDK2AP1 — 14 ClinVar variants
All ClinVar germline CDK2AP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
2 Benign · 1 Likely benign · 11 Uncertain significance
Full CDK2AP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDK2AP1 p.Ala30Ser Uncertain significance Single submitter
- CDK2AP1 p.Arg111Trp Uncertain significance Single submitter
- CDK2AP1 p.Leu7Phe Uncertain significance Single submitter
- CDK2AP1 p.Met11Val Uncertain significance Single submitter
- CDK2AP1 p.Pro25His Uncertain significance Single submitter
- CDK2AP1 p.Ser56Thr Uncertain significance Single submitter
- CDK2AP1 p.Thr109Met Uncertain significance Single submitter
- CDK2AP1 p.Val22Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CDK2AP1 variants
Likely benign 1
- p.His97= Single submitter
Uncertain significance 11
- p.Ala30Ser Single submitter ⚠
- p.Arg111Trp Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Met11Val Single submitter ⚠
- p.Pro25His Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Ser21Asn Single submitter ⚠
- p.Ser56Thr Single submitter ⚠
- p.Thr109Met Single submitter ⚠
- p.Val22Ala Single submitter ⚠