CD53 — 20 ClinVar variants
All ClinVar germline CD53 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely benign · 19 Uncertain significance
Full CD53 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD53 p.Ala172Val Uncertain significance Single submitter
- CD53 p.Arg124His Uncertain significance Single submitter
- CD53 p.Gly117Asp Uncertain significance Single submitter
- CD53 p.Ile122Thr Uncertain significance Single submitter
- CD53 p.Ile185Val Uncertain significance Single submitter
- CD53 p.Ile190Thr Uncertain significance Single submitter
- CD53 p.Ile217Thr Uncertain significance Single submitter
- CD53 p.Ser160Pro Uncertain significance Single submitter
- CD53 p.Ser201Cys Uncertain significance Single submitter
- CD53 p.Val55Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CD53 p.Asp120Asn Uncertain significance Single submitter
- CD53 p.Gly117Val Uncertain significance Single submitter
- CD53 p.Gly156Ser Uncertain significance Single submitter
- CD53 p.His45Arg Uncertain significance Single submitter
- CD53 p.Ile32Met Uncertain significance Single submitter
- CD53 p.Leu142Val Uncertain significance Single submitter
- CD53 p.Thr150Met Uncertain significance Single submitter
- CD53 p.Thr98Asn Uncertain significance Single submitter
- CD53 p.Thr98Ile Likely benign Single submitter
- CD53 p.Val57Phe Uncertain significance Single submitter
All CD53 variants
Likely benign 1
- p.Thr98Ile Single submitter ⚠
Uncertain significance 19
- p.Ala172Val Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Asp120Asn Single submitter ⚠
- p.Gly117Asp Single submitter ⚠
- p.Gly117Val Single submitter ⚠
- p.Gly156Ser Single submitter ⚠
- p.His45Arg Single submitter ⚠
- p.Ile122Thr Single submitter ⚠
- p.Ile185Val Single submitter ⚠
- p.Ile190Thr Single submitter ⚠
- p.Ile217Thr Single submitter ⚠
- p.Ile32Met Single submitter ⚠
- p.Leu142Val Single submitter ⚠
- p.Ser160Pro Single submitter ⚠
- p.Ser201Cys Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr98Asn Single submitter ⚠
- p.Val55Met Single submitter ⚠
- p.Val57Phe Single submitter ⚠