ACYP2 — 20 ClinVar variants
All ClinVar germline ACYP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely benign · 19 Uncertain significance
Full ACYP2 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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACYP2 p.Ala31Gly Uncertain significance Single submitter
- ACYP2 p.Ala4Thr Uncertain significance Single submitter
- ACYP2 p.Gly38Ser Uncertain significance Single submitter
- ACYP2 p.Phe81Ile Uncertain significance Single submitter
- ACYP2 p.Tyr12Phe Uncertain significance Single submitter
- ACYP2 p.Val40Met Uncertain significance Single submitter
- ACYP2 p.Val48Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ACYP2 p.Arg75Cys Uncertain significance Single submitter
- ACYP2 p.Arg78His Uncertain significance Single submitter
- ACYP2 p.Arg98Lys Uncertain significance Single submitter
- ACYP2 p.Arg98Thr Uncertain significance Single submitter
- ACYP2 p.Asn60Ser Uncertain significance Single submitter
- ACYP2 p.Asn83Lys Uncertain significance Single submitter
- ACYP2 p.Asp29Gly Likely benign Single submitter
- ACYP2 p.Ile34Met Uncertain significance Single submitter
- ACYP2 p.Ile34Val Uncertain significance Single submitter
- ACYP2 p.Lys85Gln Uncertain significance Single submitter
- ACYP2 p.Ser61Cys Uncertain significance Single submitter
- ACYP2 p.Ser73Cys Uncertain significance Single submitter
- ACYP2 p.Thr86Asn Uncertain significance Single submitter
All ACYP2 variants
Likely benign 1
- p.Asp29Gly Single submitter ⚠
Uncertain significance 19
- p.Ala31Gly Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Arg98Lys Single submitter ⚠
- p.Arg98Thr Single submitter ⚠
- p.Asn60Ser Single submitter ⚠
- p.Asn83Lys Single submitter ⚠
- p.Gly38Ser Single submitter ⚠
- p.Ile34Met Single submitter ⚠
- p.Ile34Val Single submitter ⚠
- p.Lys85Gln Single submitter ⚠
- p.Phe81Ile Single submitter ⚠
- p.Ser61Cys Single submitter ⚠
- p.Ser73Cys Single submitter ⚠
- p.Thr86Asn Single submitter ⚠
- p.Tyr12Phe Single submitter ⚠
- p.Val40Met Single submitter ⚠
- p.Val48Met Single submitter ⚠