POGZ (Q7Z3K3) variants and mutations
POGZ (also known as Q7Z3K3) is a human protein-coding gene encoding a pogo transposable element with ZNF domain protein. A zinc-finger chromatin-associated protein involved in chromosome organization and cell division. Variants cause White-Sutton syndrome, a neurodevelopmental disorder. This analysis covers 1,692 POGZ variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes white-sutton syndrome, Intellectual disability, and autism spectrum disorder. Example POGZ variants include M1V, A2E, and T4A.
Variant analysis overview
- Gene: POGZ
- Protein: Q7Z3K3
- UniProt accession: Q7Z3K3
- Organism: Homo sapiens
- Variants analyzed: 1692
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,356 unspecified-consequence records; 4 stop lost; 244 synonymous variants; 204 missense variants; 8 in-frame deletions; 1 stop-gained variants; 2 in-frame insertions; 2 frameshift variants; 2 substitution
- Prediction scores: 1,622 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: white-sutton syndrome, Intellectual disability, autism spectrum disorder, hereditary disease, neurodegenerative disease, neurodevelopmental disorder, microcephaly, Global developmental delay, Smith-Magenis syndrome, Strabismus, Brachycephaly, Hypoplasia of the corpus callosum.
Protein structure and variant hotspots
- Protein features: 2 domains; 17 post-translational modification sites.
- Structural context: 446 variants have structural context.
- PTM context: 30 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to POGZ
Notable POGZ variants
Examples include M1V, A2E, T4A, D5N, F7Y, M8T, C10S, C10A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs2102371063, ClinGen CA341986232, ClinVar RCV001795831, ClinVar RCV006252791, ESM-1b 1.00, AlphaMissense 0.27, Uncertain significance, not provided
- A2E (p.Ala2Glu), ExAC rs748853515, gnomAD rs748853515, REVEL 0.24, ESM-1b 0.12
- T4A (p.Thr4Ala), TOPMed rs925405769, ESM-1b 0.00, AlphaMissense 0.20
- D5N (p.Asp5Asn), rs1557938084, ClinGen CA341986206, NCI-TCGA Cosmic COSV5504, cosmic curated COSV55042, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- F7Y (p.Phe7Tyr), ExAC rs752245575, gnomAD rs752245575, REVEL 0.27, ESM-1b 1.00
- M8T (p.Met8Thr), rs2529693225, ClinGen CA341986183, ClinVar RCV002287009, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, not provided
- C10S (p.Cys10Ser), ExAC rs781348144, gnomAD rs781348144, REVEL 0.33, ESM-1b 1.00
- C10A (p.Cys10Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E11K (p.Glu11Lys), TOPMed rs1660636434, ESM-1b 1.00, AlphaMissense 0.99
- E14G (p.Glu14Gly), rs2529693122, ClinGen CA341986134, ClinVar RCV002305887, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance, not provided
- Q19R (p.Gln19Arg), gnomAD rs1389690893, REVEL 0.26, ESM-1b 1.00
- I21V (p.Ile21Val), Ensembl rs1571539588, ESM-1b 0.00, AlphaMissense 0.11
- D23G (p.Asp23Gly), ExAC rs762775121, gnomAD rs762775121, REVEL 0.33, ESM-1b 1.00
- D23H (p.Asp23His), TOPMed rs1660633366, ESM-1b 1.00, AlphaMissense 0.81
- V24I (p.Val24Ile), rs144510238, ClinGen CA1091732, ClinVar RCV000905337, ClinVar RCV003338857, REVEL 0.13, ESM-1b 0.00, Benign/Likely benign, not provided; not specified; Inborn genetic diseases
- I25T (p.Ile25Thr), Ensembl rs1660631793, REVEL 0.32, ESM-1b 0.00
- I25V (p.Ile25Val), ExAC rs764286455, gnomAD rs764286455, REVEL 0.21, ESM-1b 0.00
- D27N (p.Asp27Asn), TOPMed rs1390301993, gnomAD rs1390301993, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not provided
- S28A (p.Ser28Ala), Ensembl rs2102370709, ESM-1b 0.00, AlphaMissense 0.22
- S28C (p.Ser28Cys), gnomAD rs1439970488, REVEL 0.36, ESM-1b 0.62, Uncertain significance
- S28F (p.Ser28Phe), rs1439970488, ClinGen CA341986032, ClinVar RCV001331945, gnomAD rs1439970488, ESM-1b 1.00, AlphaMissense 0.62, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- V29A (p.Val29Ala), Ensembl rs2102370664, REVEL 0.20, ESM-1b 0.00
- V30I (p.Val30Ile), TOPMed rs1430849666, gnomAD rs1430849666, ESM-1b 0.00, AlphaMissense 0.17
- V30L (p.Val30Leu), TOPMed rs1430849666, gnomAD rs1430849666, REVEL 0.19, ESM-1b 0.00
- E31K (p.Glu31Lys), rs2102370617, ClinGen CA341986017, ClinVar RCV002244194, Ensembl rs2102370617, ESM-1b 0.00, AlphaMissense 0.89, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- D32Y (p.Asp32Tyr), rs1265917610, TOPMed rs1265917610, gnomAD rs1265917610, REVEL 0.31, ESM-1b 0.44, Variant assessed as somatic; moderate impact.
- S35L (p.Ser35Leu), rs148488014, ClinGen CA1091730, cosmic curated COSV55037, ClinVar RCV001733475, REVEL 0.22, ESM-1b 0.00, Likely benign, not provided; Inborn genetic diseases; Intellectual disability
- V36M (p.Val36Met), 1000Genomes rs190506643, ExAC rs190506643, gnomAD rs190506643, REVEL 0.21, ESM-1b 0.00
- K38R (p.Lys38Arg), gnomAD rs1342820360, REVEL 0.24, ESM-1b 0.00
- T39I (p.Thr39Ile), Ensembl rs1056366277, REVEL 0.09, ESM-1b 0.00
- T40A (p.Thr40Ala), rs2102370481, ClinGen CA341985953, ClinVar RCV002221409, Ensembl rs2102370481, ESM-1b 0.00, AlphaMissense 0.05, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- T40I (p.Thr40Ile), cosmic curated COSV99652, ExAC rs759913247, TOPMed rs759913247, gnomAD rs759913247, ESM-1b 0.00, AlphaMissense 0.30
- T40N (p.Thr40Asn), ExAC rs759913247, TOPMed rs759913247, gnomAD rs759913247, REVEL 0.07, ESM-1b 0.00
- T41A (p.Thr41Ala), gnomAD rs1442803126, REVEL 0.03, ESM-1b 0.00
- S43A (p.Ser43Ala), TOPMed rs1445317603, gnomAD rs1445317603, REVEL 0.38, ESM-1b 0.00
- V44M (p.Val44Met), rs752798900, ClinGen CA1091711, ClinVar RCV000754550, ClinVar RCV000761620, REVEL 0.38, ESM-1b 0.06, Likely benign, not specified; not provided
- Q46H (p.Gln46His), gnomAD rs1422079339, ESM-1b 0.00, AlphaMissense 0.14
- Q46P (p.Gln46Pro), ExAC rs759630728, gnomAD rs759630728, ESM-1b 0.00, AlphaMissense 0.09
- Q46R (p.Gln46Arg), ExAC rs759630728, gnomAD rs759630728, REVEL 0.35, ESM-1b 0.00
- V49L (p.Val49Leu), ExAC rs774769269, TOPMed rs774769269, gnomAD rs774769269, REVEL 0.23, ESM-1b 0.00
- S50L (p.Ser50Leu), rs368370239, ClinGen CA1091707, ClinVar RCV003204457, ESP rs368370239, REVEL 0.32, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- P52A (p.Pro52Ala), rs199870784, ClinGen CA341985868, ClinVar RCV001754308, 1000Genomes rs199870784, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, not provided
- P52S (p.Pro52Ser), 1000Genomes rs199870784, ExAC rs199870784, TOPMed rs199870784, gnomAD rs199870784, REVEL 0.27, ESM-1b 0.00, Uncertain significance
- V53G (p.Val53Gly), TOPMed rs1660449423, gnomAD rs1660449423, REVEL 0.41, ESM-1b 0.00
- V53M (p.Val53Met), ESP rs144583773, ExAC rs144583773, TOPMed rs144583773, gnomAD rs144583773, REVEL 0.32, ESM-1b 0.00
- P54R (p.Pro54Arg), Ensembl rs1660448694, ESM-1b 0.00, AlphaMissense 0.39
- P54S (p.Pro54Ser), TOPMed rs1181400367, gnomAD rs1181400367, REVEL 0.47, ESM-1b 0.00
- I55V (p.Ile55Val), rs768095572, ClinGen CA1091701, ClinVar RCV002227811, ClinVar RCV004738562, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- A56T (p.Ala56Thr), rs1283746447, ClinGen CA341985847, ClinVar RCV003135074, TOPMed rs1283746447, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- A57T (p.Ala57Thr), TOPMed rs1046798842, gnomAD rs1046798842, REVEL 0.24, ESM-1b 0.00
- S60F (p.Ser60Phe), gnomAD rs1215783210, REVEL 0.59, ESM-1b 0.69
- G63C (p.Gly63Cys), NCI-TCGA Cosmic COSV5503, NCI-TCGA Cosmic COSV9965, cosmic curated COSV99652, Variant assessed as somatic; moderate impact.
- H64P (p.His64Pro), Ensembl rs1571533068, ESM-1b 0.00, AlphaMissense 0.07
- S68P (p.Ser68Pro), Ensembl rs78269455, ESM-1b 0.00, AlphaMissense 0.08
- T69S (p.Thr69Ser), TOPMed rs1660442287, gnomAD rs1660442287, REVEL 0.15, ESM-1b 0.00
- T70I (p.Thr70Ile), TOPMed rs900840511, gnomAD rs900840511, REVEL 0.16, ESM-1b 0.00
- T70P (p.Thr70Pro), gnomAD rs1314607982, REVEL 0.14, ESM-1b 0.00
- T70S (p.Thr70Ser), TOPMed rs900840511, gnomAD rs900840511, REVEL 0.09, ESM-1b 0.00
- V71I (p.Val71Ile), rs866632178, ClinGen CA29597607, cosmic curated COSV55035, ClinVar RCV000754549, REVEL 0.05, ESM-1b 0.00, association, Autism spectrum disorder
- S73N (p.Ser73Asn), TOPMed rs369588786, REVEL 0.03, ESM-1b 0.00
- S74G (p.Ser74Gly), TOPMed rs1294729107, ESM-1b 0.00, AlphaMissense 0.09
- G75R (p.Gly75Arg), rs758286970, ClinGen CA1091698, ClinVar RCV003281326, ExAC rs758286970, REVEL 0.18, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- G75C (p.Gly75Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A76T (p.Ala76Thr), Ensembl rs886593058, REVEL 0.12, ESM-1b 0.00
- Q77* (p.Gln77Ter), rs2102364582, ClinGen CA341985632, ClinVar RCV001760783, Ensembl rs2102364582, Uncertain significance
- Q77R (p.Gln77Arg), TOPMed rs1307936928, ESM-1b 0.00, AlphaMissense 0.18
- D80E (p.Asp80Glu), TOPMed rs930874795, gnomAD rs930874795, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not specified
- D80G (p.Asp80Gly), ExAC rs778632246, gnomAD rs778632246, REVEL 0.19, ESM-1b 0.00
- D80N (p.Asp80Asn), TOPMed rs1048391852, gnomAD rs1048391852, REVEL 0.16, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- T82R (p.Thr82Arg), rs2529678767, ClinGen CA341985535, ClinVar RCV002510749, ESM-1b 0.00, AlphaMissense 0.40, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- K83R (p.Lys83Arg), TOPMed rs899455671, REVEL 0.10, ESM-1b 0.00
- K84T (p.Lys84Thr), ExAC rs756360462, gnomAD rs756360462, REVEL 0.21, ESM-1b 0.00
- T85P (p.Thr85Pro), ExAC rs752956743, TOPMed rs752956743, gnomAD rs752956743, REVEL 0.24, ESM-1b 0.00
- T85S (p.Thr85Ser), ExAC rs767757189, gnomAD rs767757189, ESM-1b 0.00, AlphaMissense 0.26
- V87I (p.Val87Ile), ExAC rs755075101, gnomAD rs755075101, ESM-1b 0.00, AlphaMissense 0.12
- T88R (p.Thr88Arg), rs2529678334, ClinGen CA341985446, ClinVar RCV003340848, ESM-1b 0.00, AlphaMissense 0.63, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- L89V (p.Leu89Val), Ensembl rs937960719, ESM-1b 0.00, AlphaMissense 0.11
- A91D (p.Ala91Asp), rs1557935477, ClinGen CA341985401, ClinVar RCV000754548, Ensembl rs1557935477, ESM-1b 0.39, AlphaMissense 0.75, association, Autism spectrum disorder
- N92K (p.Asn92Lys), gnomAD rs1192942609, REVEL 0.21, ESM-1b 0.00
- N93D (p.Asn93Asp), TOPMed rs1369992245, gnomAD rs1369992245, REVEL 0.19, ESM-1b 0.46
- N93K (p.Asn93Lys), Ensembl rs982199654, REVEL 0.21, ESM-1b 0.00
- N93S (p.Asn93Ser), TOPMed rs1293991661, gnomAD rs1293991661, REVEL 0.21, ESM-1b 0.00
- N94I (p.Asn94Ile), TOPMed rs1660429168, ESM-1b 0.00, AlphaMissense 0.23
- N94S (p.Asn94Ser), TOPMed rs1660429168, REVEL 0.18, ESM-1b 0.00
- A95G (p.Ala95Gly), NCI-TCGA Cosmic COSV5503, cosmic curated COSV55035, Variant assessed as somatic; moderate impact.
- G96C (p.Gly96Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N97S (p.Asn97Ser), rs2529544037, ClinGen CA341982782, ClinVar RCV003408873, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not provided
- L99S (p.Leu99Ser), rs1658557379, ClinGen CA341982760, ClinVar RCV001806888, Ensembl rs1658557379, REVEL 0.25, ESM-1b 0.00, Uncertain significance, not provided
- V100I (p.Val100Ile), TOPMed rs1658556976, ESM-1b 0.00, AlphaMissense 0.10
- Q101H (p.Gln101His), rs1557916296, ClinGen CA341982743, ClinVar RCV000754547, Ensembl rs1557916296, ESM-1b 0.00, AlphaMissense 0.22, association, Autism spectrum disorder
- Q101R (p.Gln101Arg), Ensembl rs1286596535, REVEL 0.23, ESM-1b 0.00
- Q102P (p.Gln102Pro), gnomAD rs372617697, REVEL 0.16, ESM-1b 0.00
- G103S (p.Gly103Ser), rs1315664936, ClinGen CA341982735, ClinVar RCV002812224, TOPMed rs1315664936, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G104R (p.Gly104Arg), TOPMed rs1658554814, ESM-1b 0.00, AlphaMissense 0.36
- L107F (p.Leu107Phe), rs998675361, ClinGen CA29590073, ClinVar RCV003231890, TOPMed rs998675361, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not provided
- L107V (p.Leu107Val), rs998675361, ClinGen CA341982708, ClinVar RCV000754546, TOPMed rs998675361, REVEL 0.23, ESM-1b 0.00, association, Autism spectrum disorder
- I108V (p.Ile108Val), TOPMed rs1399896860, REVEL 0.05, ESM-1b 0.00
- P113A (p.Pro113Ala), Ensembl rs2102308316, ESM-1b 0.00, AlphaMissense 0.06
- A114S (p.Ala114Ser), ExAC rs751606136, gnomAD rs751606136, REVEL 0.11, ESM-1b 0.00
- T119I (p.Thr119Ile), Ensembl rs1320649447, REVEL 0.32, ESM-1b 0.00
- M120V (p.Met120Val), rs377068982, ClinGen CA1091659, ClinVar RCV003135075, ClinVar RCV003410271, REVEL 0.30, ESM-1b 0.00, Conflicting interpretations, not provided; Intellectual disability-microcephaly-strabismus-behavioral abnorma
- P124S (p.Pro124Ser), Ensembl rs1658547487, ESM-1b 0.00, AlphaMissense 0.20
- V125I (p.Val125Ile), rs2529542692, ClinGen CA341982412, ClinVar RCV004552442, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, POGZ-related disorder
- Q130E (p.Gln130Glu), rs2529542454, ClinGen CA341982330, ClinVar RCV002467103, REVEL 0.24, ESM-1b 1.00, Uncertain significance, not provided
- V131I (p.Val131Ile), Ensembl rs1658545692, ESM-1b 0.00, AlphaMissense 0.08
- M132V (p.Met132Val), rs2102308092, ClinGen CA341982294, ClinVar RCV002248107, Ensembl rs2102308092, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not specified
- Q133E (p.Gln133Glu), rs2529542291, ClinGen CA341982274, ClinVar RCV004550652, ESM-1b 1.00, AlphaMissense 0.24, Uncertain significance, POGZ-related disorder
- Q133H (p.Gln133His), TOPMed rs1194519362, REVEL 0.24, ESM-1b 0.00
- Q133R (p.Gln133Arg), ExAC rs776985962, gnomAD rs776985962, REVEL 0.23, ESM-1b 0.00
- N136D (p.Asn136Asp), gnomAD rs1177289550, REVEL 0.19, ESM-1b 0.89
- N136S (p.Asn136Ser), rs141132016, ClinGen CA1091656, ClinVar RCV001090404, ClinVar RCV002320360, REVEL 0.18, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- H137R (p.His137Arg), TOPMed rs1479424067, gnomAD rs1479424067, REVEL 0.26, ESM-1b 0.00
- S140T (p.Ser140Thr), TOPMed rs1190404898, gnomAD rs1190404898, REVEL 0.12, ESM-1b 0.00
- S141C (p.Ser141Cys), ExAC rs760323321, gnomAD rs760323321, REVEL 0.35, ESM-1b 0.77
- S141P (p.Ser141Pro), TOPMed rs1658542036, gnomAD rs1658542036, REVEL 0.22, ESM-1b 0.00
- Q146K (p.Gln146Lys), ExAC rs771612415, gnomAD rs771612415, REVEL 0.35, ESM-1b 0.37
- I148L (p.Ile148Leu), gnomAD rs1180210453, REVEL 0.18, ESM-1b 0.00
- T151A (p.Thr151Ala), gnomAD rs1456173407, ESM-1b 0.00, AlphaMissense 0.75
- T152M (p.Thr152Met), rs1200555207, NCI-TCGA Cosmic COSV5503, cosmic curated COSV55034, NCI-TCGA Cosmic COSV5504, REVEL 0.31, ESM-1b 0.00, Uncertain significance, not provided
- T152R (p.Thr152Arg), NCI-TCGA Cosmic COSV5503, NCI-TCGA Cosmic COSV5504, cosmic curated COSV55040, TOPMed rs1200555207, REVEL 0.30, ESM-1b 0.37, Uncertain significance
- T152A (p.Thr152Ala), NCI-TCGA Cosmic COSV5503, cosmic curated COSV55038, Variant assessed as somatic; moderate impact.
- G154R (p.Gly154Arg), TOPMed rs1658381566, gnomAD rs1658381566, REVEL 0.35, ESM-1b 0.40
- G154T (p.Gly154Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V157I (p.Val157Ile), Ensembl rs1557914083, ESM-1b 0.00, AlphaMissense 0.37
- N159D (p.Asn159Asp), ExAC rs752445050, gnomAD rs752445050, REVEL 0.14, ESM-1b 0.88
- V160A (p.Val160Ala), Ensembl rs2102303176, ESM-1b 0.35, AlphaMissense 0.82
- R161Q (p.Arg161Gln), ExAC rs767143110, gnomAD rs767143110, REVEL 0.29, ESM-1b 0.00
- V163I (p.Val163Ile), gnomAD rs1247327539, REVEL 0.33, ESM-1b 0.00
- A166G (p.Ala166Gly), Ensembl rs951768095, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance
- A166T (p.Ala166Thr), rs2102303092, ClinGen CA341980952, ClinVar RCV001977907, Ensembl rs2102303092, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, not provided
- A166V (p.Ala166Val), rs951768095, ClinGen CA341980939, ClinVar RCV003699915, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, not provided
- M167V (p.Met167Val), rs375045125, ClinGen CA1091631, ClinVar RCV000754545, ExAC rs375045125, REVEL 0.50, ESM-1b 0.00, association, Autism spectrum disorder
- N168K (p.Asn168Lys), rs2529527354, ClinGen CA341980903, ClinVar RCV004512170, ESM-1b 0.00, AlphaMissense 0.95, Uncertain significance, Inborn genetic diseases
- V176I (p.Val176Ile), NCI-TCGA TCGA novel, Ensembl rs2102303031, ESM-1b 0.00, AlphaMissense 0.41, Variant assessed as somatic; moderate impact.
- G179T (p.Gly179Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T181A (p.Thr181Ala), gnomAD rs750938861, REVEL 0.38, ESM-1b 0.00
- T181M (p.Thr181Met), cosmic curated COSV55033, gnomAD rs200259906, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- V182F (p.Val182Phe), gnomAD rs1359729945, REVEL 0.47, ESM-1b 0.00
- I185V (p.Ile185Val), cosmic curated COSV99653, ExAC rs772989205, TOPMed rs772989205, gnomAD rs772989205, REVEL 0.39, ESM-1b 0.00
- P189S (p.Pro189Ser), ExAC rs780487533, gnomAD rs780487533, REVEL 0.33, ESM-1b 0.00
- P189T (p.Pro189Thr), ExAC rs780487533, gnomAD rs780487533, REVEL 0.45, ESM-1b 0.00
- P191T (p.Pro191Thr), rs1199579958, NCI-TCGA Cosmic COSV9965, cosmic curated COSV99652, gnomAD rs1199579958, ESM-1b 0.00, AlphaMissense 0.50, Variant assessed as somatic; moderate impact.
- G192A (p.Gly192Ala), ExAC rs778410657, gnomAD rs778410657, ESM-1b 0.00, AlphaMissense 0.39
- G192D (p.Gly192Asp), rs778410657, NCI-TCGA Cosmic COSV5503, cosmic curated COSV55038, ExAC rs778410657, REVEL 0.29, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G192S (p.Gly192Ser), rs749317465, ClinGen CA1091603, ClinVar RCV002792747, ExAC rs749317465, REVEL 0.21, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- T193A (p.Thr193Ala), TOPMed rs1325417709, REVEL 0.16, ESM-1b 0.00
- Q194H (p.Gln194His), TOPMed rs1218050731, gnomAD rs1218050731, REVEL 0.23, ESM-1b 0.00, Likely benign
- F195C (p.Phe195Cys), gnomAD rs1338692189, REVEL 0.31, ESM-1b 0.48
- F195L (p.Phe195Leu), Ensembl rs1658127451, ESM-1b 0.00, AlphaMissense 0.96
- V196I (p.Val196Ile), gnomAD rs1275418498, REVEL 0.14, ESM-1b 0.00
- K197R (p.Lys197Arg), ExAC rs756512901, TOPMed rs756512901, gnomAD rs756512901, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not provided
- P198S (p.Pro198Ser), gnomAD rs1329204977, REVEL 0.38, ESM-1b 0.00
- T199A (p.Thr199Ala), rs1029784776, ClinGen CA341978584, ClinVar RCV002954226, gnomAD rs1029784776, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, not provided
- T199S (p.Thr199Ser), gnomAD rs1029784776, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance
- V200D (p.Val200Asp), ExAC rs781492157, gnomAD rs781492157, REVEL 0.29, ESM-1b 1.00
- V202A (p.Val202Ala), 1000Genomes rs565923819, ExAC rs565923819, gnomAD rs565923819, REVEL 0.43, ESM-1b 0.00
- P203A (p.Pro203Ala), gnomAD rs1464603125, ESM-1b 0.00, AlphaMissense 0.35
- V205A (p.Val205Ala), gnomAD rs1174868030, REVEL 0.35, ESM-1b 0.00
- V205G (p.Val205Gly), gnomAD rs1174868030, ESM-1b 0.00, AlphaMissense 0.76
- S207P (p.Ser207Pro), gnomAD rs1477323477, REVEL 0.46, ESM-1b 0.00
- M209L (p.Met209Leu), rs1557911386, ClinGen CA341978272, ClinVar RCV000754544, Ensembl rs1557911386, ESM-1b 0.00, AlphaMissense 0.18, association, Autism spectrum disorder
- T210I (p.Thr210Ile), TOPMed rs1377437933, gnomAD rs1377437933, REVEL 0.42, ESM-1b 0.00
- T210N (p.Thr210Asn), TOPMed rs1377437933, gnomAD rs1377437933, REVEL 0.39, ESM-1b 0.00
- V212M (p.Val212Met), rs1553226286, ClinGen CA341978235, ClinVar RCV000523607, ClinVar RCV000678378, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- R213G (p.Arg213Gly), gnomAD rs1179579270, REVEL 0.52, ESM-1b 0.13
- P214S (p.Pro214Ser), ExAC rs766001063, gnomAD rs766001063, REVEL 0.32, ESM-1b 0.00
- G215R (p.Gly215Arg), TOPMed rs1658118101, REVEL 0.45, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G215V (p.Gly215Val), ExAC rs757988561, gnomAD rs757988561, REVEL 0.44, ESM-1b 0.00, Uncertain significance, not provided
- S216P (p.Ser216Pro), TOPMed rs1658116581, ESM-1b 0.00, AlphaMissense 0.12
- T217A (p.Thr217Ala), rs765232832, ClinGen CA341978071, ClinVar RCV003262292, ExAC rs765232832, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T217I (p.Thr217Ile), rs2529506688, ClinGen CA341978057, ClinVar RCV002888151, REVEL 0.33, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- T217S (p.Thr217Ser), rs765232832, ClinGen CA1091593, ClinVar RCV003211491, ExAC rs765232832, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- M218V (p.Met218Val), rs367730950, ClinGen CA1091592, ClinVar RCV002769415, ESP rs367730950, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P219S (p.Pro219Ser), gnomAD rs1342710644, ESM-1b 0.00, AlphaMissense 0.17
- V220M (p.Val220Met), ExAC rs764019237, TOPMed rs764019237, gnomAD rs764019237, REVEL 0.30, ESM-1b 0.00
- P222H (p.Pro222His), rs1658111867, ClinGen CA341977965, ClinVar RCV001303647, Ensembl rs1658111867, ESM-1b 0.00, AlphaMissense 0.59, Uncertain significance, not provided
- T223A (p.Thr223Ala), TOPMed rs1306689632, gnomAD rs1306689632, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T223P (p.Thr223Pro), TOPMed rs1306689632, gnomAD rs1306689632, ESM-1b 0.00, AlphaMissense 0.10
- T224A (p.Thr224Ala), gnomAD rs965077071, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T226P (p.Thr226Pro), Ensembl rs1571456537, ESM-1b 0.00, AlphaMissense 0.22
Public POGZ analysis runs
- POGZ analysis run — POGZ (1,692 variants) — completed 2026-10-09