CACFD1 — 50 ClinVar variants
All ClinVar germline CACFD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
3 Likely benign · 47 Uncertain significance
Full CACFD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACFD1 p.Ala102Gly Uncertain significance Single submitter
- CACFD1 p.Ala126Thr Uncertain significance Single submitter
- CACFD1 p.Ala128Thr Uncertain significance Single submitter
- CACFD1 p.Ala165Val Uncertain significance Single submitter
- CACFD1 p.Ala43Glu Uncertain significance Single submitter
- CACFD1 p.Ala43Thr Uncertain significance Single submitter
- CACFD1 p.Ala59Glu Uncertain significance Single submitter
- CACFD1 p.Ala59Val Uncertain significance Single submitter
- CACFD1 p.Ala76Val Uncertain significance Single submitter
- CACFD1 p.Asn49Ser Uncertain significance Single submitter
- CACFD1 p.Asp94Asn Uncertain significance Single submitter
- CACFD1 p.Glu169Asp Uncertain significance Single submitter
- CACFD1 p.Glu84Lys Uncertain significance Single submitter
- CACFD1 p.Gly170Arg Uncertain significance Single submitter
- CACFD1 p.Gly38Glu Uncertain significance Single submitter
- CACFD1 p.Gly9Arg Uncertain significance Single submitter
- CACFD1 p.Ile113Val Uncertain significance Single submitter
- CACFD1 p.Met108Val Uncertain significance Single submitter
- CACFD1 p.Pro55His Uncertain significance Single submitter
- CACFD1 p.Ser34Cys Uncertain significance Single submitter
- CACFD1 p.Thr167Asn Uncertain significance Single submitter
- CACFD1 p.Tyr149Phe Uncertain significance Single submitter
- CACFD1 p.Val114Ile Uncertain significance Single submitter
- CACFD1 p.Val89Glu Uncertain significance Single submitter
- CACFD1 p.Val89Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CACFD1 p.Ala15Glu Uncertain significance Single submitter
- CACFD1 p.Arg97Cys Uncertain significance Single submitter
- CACFD1 p.Arg97His Uncertain significance Single submitter
- CACFD1 p.Leu168Met Likely benign Single submitter
- CACFD1 p.Ser116Ile Uncertain significance Single submitter
- CACFD1 p.Ser13Thr Uncertain significance Single submitter
- CACFD1 p.Ser2Asn Uncertain significance Single submitter
- CACFD1 p.Thr121Met Uncertain significance Single submitter
- CACFD1 p.Trp29Cys Uncertain significance Single submitter
- CACFD1 p.Val62Met Uncertain significance Single submitter
All CACFD1 variants
Likely benign 3
- p.Ala165Glu Single submitter
- p.Ala165Thr Single submitter
- p.Leu168Met Single submitter ⚠
Uncertain significance 47
- c.429-111A>G Single submitter
- c.429-158G>A Single submitter
- c.429-159G>C Single submitter
- c.429-195G>A Single submitter
- c.429-197C>A Single submitter
- c.*12C>T Single submitter
- c.*30C>T Single submitter
- c.*45G>A Single submitter
- c.*54A>T Single submitter
- p.Ala102Gly Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala128Thr Single submitter ⚠
- p.Ala146= Single submitter
- p.Ala15Glu Single submitter ⚠
- p.Ala165Val Single submitter ⚠
- p.Ala43Glu Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala59Glu Single submitter ⚠
- p.Ala59Val Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Arg97Cys Single submitter ⚠
- p.Arg97His Single submitter ⚠
- p.Asn49Ser Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Glu169Asp Single submitter ⚠
- p.Glu84Lys Single submitter ⚠
- p.Gly144= Single submitter
- p.Gly170Arg Single submitter ⚠
- p.Gly38Glu Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.Ile113Val Single submitter ⚠
- p.Leu164= Single submitter
- p.Lys143= Single submitter
- p.Met108Val Single submitter ⚠
- p.Pro55His Single submitter ⚠
- p.Ser116Ile Single submitter ⚠
- p.Ser13Thr Single submitter ⚠
- p.Ser2Asn Single submitter ⚠
- p.Ser34Cys Single submitter ⚠
- p.Thr121Met Single submitter ⚠
- p.Thr167Asn Single submitter ⚠
- p.Trp29Cys Single submitter ⚠
- p.Tyr149Phe Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val62Met Single submitter ⚠
- p.Val89Glu Single submitter ⚠
- p.Val89Met Single submitter ⚠