ACP4 — 130 ClinVar variants
All ClinVar germline ACP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
8 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 8 Benign · 17 Likely benign · 92 Uncertain significance
Full ACP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 vs ClinVar 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACP4 p.Pro249Leu
Pathogenic
Single submitter
amelogenesis imperfecta, type 1J
-
ACP4 p.Val246Met
Likely pathogenic
Single submitter
amelogenesis imperfecta, type 1J
-
ACP4 p.Ala128Pro
Pathogenic
No assertion criteria
amelogenesis imperfecta, type 1J
-
ACP4 p.Arg76Cys
Pathogenic
No assertion criteria
amelogenesis imperfecta, type 1J
-
ACP4 p.Glu133Lys
Pathogenic
No assertion criteria
amelogenesis imperfecta, type 1J
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACP4 p.Ala173Thr Uncertain significance Single submitter
- ACP4 p.Ala294Asp Uncertain significance Single submitter
- ACP4 p.Ala310Pro Uncertain significance Single submitter
- ACP4 p.Ala310Val Uncertain significance Single submitter
- ACP4 p.Ala342Thr Uncertain significance Single submitter
- ACP4 p.Ala389Asp Uncertain significance Single submitter
- ACP4 p.Arg232Gly Uncertain significance Single submitter
- ACP4 p.Arg40His Uncertain significance Single submitter
- ACP4 p.Arg44Trp Uncertain significance Single submitter
- ACP4 p.Arg65Gln Uncertain significance Single submitter
- ACP4 p.Arg98Gln Uncertain significance Single submitter
- ACP4 p.Gln69Arg Uncertain significance Single submitter
- ACP4 p.Glu133Gly Uncertain significance Single submitter
- ACP4 p.Glu200Lys Uncertain significance Single submitter
- ACP4 p.Gly122Arg Uncertain significance Single submitter
- ACP4 p.Gly243Glu Uncertain significance Single submitter
- ACP4 p.Gly3Ser Uncertain significance Single submitter
- ACP4 p.Gly424Ser Uncertain significance Single submitter
- ACP4 p.His142Tyr Uncertain significance Single submitter
- ACP4 p.His163Gln Uncertain significance Single submitter
- ACP4 p.His374Arg Uncertain significance Single submitter
-
ACP4 p.Leu209Pro
Uncertain significance
Single submitter
amelogenesis imperfecta, type 1J
- ACP4 p.Lys150Glu Uncertain significance Single submitter
- ACP4 p.Phe124Ser Uncertain significance Single submitter
- ACP4 p.Pro10Arg Uncertain significance Single submitter
- ACP4 p.Pro138Leu Uncertain significance Single submitter
- ACP4 p.Pro354Gln Uncertain significance Single submitter
- ACP4 p.Pro354Leu Uncertain significance Single submitter
- ACP4 p.Pro416Arg Uncertain significance Single submitter
- ACP4 p.Pro46Leu Uncertain significance Single submitter
-
ACP4 p.Ser238Leu
Uncertain significance
Single submitter
amelogenesis imperfecta type 1
- ACP4 p.Thr107Met Uncertain significance Single submitter
- ACP4 p.Thr112Met Uncertain significance Single submitter
- ACP4 p.Thr183Met Uncertain significance Single submitter
- ACP4 p.Tyr175Cys Uncertain significance Single submitter
- ACP4 p.Tyr309His Uncertain significance Single submitter
- ACP4 p.Tyr382Phe Uncertain significance Single submitter
- ACP4 p.Val141Ala Uncertain significance Single submitter
- ACP4 p.Val75Ile Uncertain significance Single submitter
-
ACP4 p.Arg88Ser
Uncertain significance
No assertion criteria
amelogenesis imperfecta
-
ACP4 p.Pro140Leu
Uncertain significance
No assertion criteria
amelogenesis imperfecta
Predictors split 51
The independent predictors disagree with each other — read with care.
- ACP4 p.Ala265Val Uncertain significance Single submitter
- ACP4 p.Ala355Val Uncertain significance Single submitter
-
ACP4 p.Ala400Asp
Uncertain significance
Single submitter
amelogenesis imperfecta, type 1J
- ACP4 p.Arg105His Uncertain significance Single submitter
- ACP4 p.Arg135Cys Uncertain significance Single submitter
- ACP4 p.Arg137Thr Uncertain significance Single submitter
- ACP4 p.Arg157Cys Uncertain significance Single submitter
- ACP4 p.Arg161Gln Uncertain significance Single submitter
- ACP4 p.Arg188Cys Uncertain significance Single submitter
- ACP4 p.Arg203Cys Uncertain significance Single submitter
- ACP4 p.Arg203His Uncertain significance Single submitter
- ACP4 p.Arg232Trp Uncertain significance Single submitter
- ACP4 p.Arg250Trp Uncertain significance Single submitter
- ACP4 p.Arg25Trp Uncertain significance Single submitter
- ACP4 p.Arg272Trp Uncertain significance Single submitter
- ACP4 p.Arg318Gln Uncertain significance Single submitter
- ACP4 p.Arg318Trp Uncertain significance Single submitter
- ACP4 p.Arg370Trp Uncertain significance Single submitter
- ACP4 p.Arg76His Uncertain significance Single submitter
- ACP4 p.Arg88Cys Uncertain significance Single submitter
- ACP4 p.Arg98Trp Uncertain significance Single submitter
- ACP4 p.Cys418Tyr Uncertain significance Single submitter
-
ACP4 p.Gln117Arg
Uncertain significance
Single submitter
amelogenesis imperfecta
- ACP4 p.Gln296Lys Uncertain significance Single submitter
- ACP4 p.Glu164Lys Uncertain significance Single submitter
- ACP4 p.Glu171Lys Uncertain significance Single submitter
- ACP4 p.Gly181Cys Uncertain significance Single submitter
- ACP4 p.Gly184Cys Uncertain significance Single submitter
- ACP4 p.Gly219Arg Uncertain significance Single submitter
- ACP4 p.Gly314Ser Uncertain significance Single submitter
- ACP4 p.Gly397Arg Uncertain significance Single submitter
- ACP4 p.Gly397Glu Uncertain significance Single submitter
- ACP4 p.Gly410Asp Uncertain significance Single submitter
- ACP4 p.His218Asn Uncertain significance Single submitter
- ACP4 p.Ile104Leu Uncertain significance Single submitter
- ACP4 p.Leu195Pro Uncertain significance Single submitter
- ACP4 p.Leu411Met Uncertain significance Single submitter
-
ACP4 p.Met282Thr
Pathogenic
Single submitter
amelogenesis imperfecta, type 1J
- ACP4 p.Phe124Leu Uncertain significance Single submitter
- ACP4 p.Phe317Leu Uncertain significance Single submitter
- ACP4 p.Pro221Arg Uncertain significance Single submitter
- ACP4 p.Pro228Gln Uncertain significance Single submitter
- ACP4 p.Pro307Leu Uncertain significance Single submitter
- ACP4 p.Pro356Leu Uncertain significance Single submitter
- ACP4 p.Pro368Leu Uncertain significance Single submitter
- ACP4 p.Pro416Ser Uncertain significance Single submitter
- ACP4 p.Ser271Pro Uncertain significance Single submitter
- ACP4 p.Thr233Ile Uncertain significance Single submitter
- ACP4 p.Thr72Met Uncertain significance Single submitter
- ACP4 p.Val35Met Uncertain significance Single submitter
-
ACP4 p.Thr143Met
Pathogenic
No assertion criteria
amelogenesis imperfecta, type 1J
All ACP4 variants
Pathogenic 8
- p.Leu85Pro Single submitter amelogenesis imperfecta, type 1J
- p.Met282Thr Single submitter amelogenesis imperfecta, type 1J ⚠
- p.Pro249Leu Single submitter amelogenesis imperfecta, type 1J ⚠
- p.Val146fs Single submitter amelogenesis imperfecta, type 1J
- p.Ala128Pro No assertion criteria amelogenesis imperfecta, type 1J ⚠
- p.Arg76Cys No assertion criteria amelogenesis imperfecta, type 1J ⚠
- p.Glu133Lys No assertion criteria amelogenesis imperfecta, type 1J ⚠
- p.Thr143Met No assertion criteria amelogenesis imperfecta, type 1J ⚠
Pathogenic/Likely pathogenic 1
- p.Arg111Cys Multiple submitters amelogenesis imperfecta, type 1J
Likely pathogenic 4
- c.645+1G>A Single submitter amelogenesis imperfecta, type 1J
- c.984_986+1del Single submitter amelogenesis imperfecta, type 1J
- p.Arg76fs Single submitter
- p.Val246Met Single submitter amelogenesis imperfecta, type 1J ⚠
Benign 8
- c.550-4C>T Multiple submitters
- c.550-9C>T Multiple submitters
- p.Gly328Ala Multiple submitters
- p.Pro125= Multiple submitters
- p.Ala325Asp No assertion criteria ACP4-related disorder
- p.Ala325Thr No assertion criteria ACP4-related disorder
- p.Leu20del No assertion criteria ACP4-related disorder
- p.Thr72= No assertion criteria ACP4-related disorder
Likely benign 17
- c.450+19C>T Single submitter
- p.Arg135His Single submitter
- p.Arg232Gln Single submitter
- p.Arg25Gln Single submitter
- p.Glu90Lys Single submitter
- p.Leu313= Single submitter
- p.Lys326Glu Single submitter
- p.Met156Thr Single submitter
- c.1165+2T>G No assertion criteria ACP4-related disorder
- c.549+7A>G No assertion criteria ACP4-related disorder
- c.550-8G>A No assertion criteria ACP4-related disorder
- p.Ala121= No assertion criteria ACP4-related disorder
- p.His218= No assertion criteria ACP4-related disorder
- p.Pro155= No assertion criteria ACP4-related disorder
- p.Pro46= No assertion criteria ACP4-related disorder
- p.Ser341= No assertion criteria ACP4-related disorder
- p.Thr143= No assertion criteria ACP4-related disorder
Uncertain significance 92
- p.Ala173Thr Single submitter ⚠
- p.Ala265Val Single submitter ⚠
- p.Ala294Asp Single submitter ⚠
- p.Ala310Leu Single submitter
- p.Ala310Pro Single submitter ⚠
- p.Ala310Val Single submitter ⚠
- p.Ala342Thr Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala389Asp Single submitter ⚠
- p.Ala400Asp Single submitter amelogenesis imperfecta, type 1J ⚠
- p.Arg105His Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg137Thr Single submitter ⚠
- p.Arg157Cys Single submitter ⚠
- p.Arg161Gln Single submitter ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg203His Single submitter ⚠
- p.Arg232Gly Single submitter ⚠
- p.Arg232Trp Single submitter ⚠
- p.Arg250Trp Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg272Trp Single submitter ⚠
- p.Arg318Gln Single submitter ⚠
- p.Arg318Trp Single submitter ⚠
- p.Arg370Trp Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Arg98Trp Single submitter ⚠
- p.Cys418Tyr Single submitter ⚠
- p.Gln117Arg Single submitter amelogenesis imperfecta ⚠
- p.Gln296Lys Single submitter ⚠
- p.Gln69Arg Single submitter ⚠
- p.Glu133Gly Single submitter ⚠
- p.Glu164Lys Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly181Cys Single submitter ⚠
- p.Gly184Cys Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly243Glu Single submitter ⚠
- p.Gly314Ser Single submitter ⚠
- p.Gly397Arg Single submitter ⚠
- p.Gly397Glu Single submitter ⚠
- p.Gly3Ser Single submitter ⚠
- p.Gly410Asp Single submitter ⚠
- p.Gly424Ser Single submitter ⚠
- p.His142Tyr Single submitter ⚠
- p.His163Gln Single submitter ⚠
- p.His218Asn Single submitter ⚠
- p.His374Arg Single submitter ⚠
- p.Ile104Leu Single submitter ⚠
- p.Leu195Pro Single submitter ⚠
- p.Leu209Pro Single submitter amelogenesis imperfecta, type 1J ⚠
- p.Leu411Met Single submitter ⚠
- p.Lys150Glu Single submitter ⚠
- p.Phe124Leu Single submitter ⚠
- p.Phe124Ser Single submitter ⚠
- p.Phe317Leu Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro138Leu Single submitter ⚠
- p.Pro221Arg Single submitter ⚠
- p.Pro228Gln Single submitter ⚠
- p.Pro307Leu Single submitter ⚠
- p.Pro354Gln Single submitter ⚠
- p.Pro354Leu Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro368Leu Single submitter ⚠
- p.Pro416Arg Single submitter ⚠
- p.Pro416Ser Single submitter ⚠
- p.Pro46Leu Single submitter ⚠
- p.Ser238Leu Single submitter amelogenesis imperfecta type 1 ⚠
- p.Ser271Pro Single submitter ⚠
- p.Thr107Met Single submitter ⚠
- p.Thr112Met Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr233Ile Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Trp206Ter Single submitter
- p.Tyr175Cys Single submitter ⚠
- p.Tyr309His Single submitter ⚠
- p.Tyr382Phe Single submitter ⚠
- p.Val141Ala Single submitter ⚠
- p.Val35Met Single submitter ⚠
- p.Val75Ile Single submitter ⚠
- p.Arg88Ser No assertion criteria amelogenesis imperfecta ⚠
- p.Pro140Leu No assertion criteria amelogenesis imperfecta ⚠