ZFHX3 (Zinc finger homeobox protein 3) variants and mutations
ZFHX3 (also known as Zinc finger homeobox protein 3) is a human protein-coding gene encoding a zinc finger homeobox protein 3 protein. Its annotated function is transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription…. It is annotated at the nucleus. This analysis covers 7,388 ZFHX3 variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes atrial fibrillation, prostate carcinoma, and type 2 diabetes mellitus. Example ZFHX3 variants include M1?, E2D, and E2K.
Variant analysis overview
- Gene: ZFHX3
- Protein: Zinc finger homeobox protein 3
- UniProt accession: Q15911
- Organism: Homo sapiens
- Variants analyzed: 7388
- Variant scope: all variants
- Completed: 2026-09-28
Variant and mutation evidence
- Variant composition: 7,174 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 113 missense variants; 114 synonymous variants; 42 frameshift variants; 3 stop-gained variants; 18 in-frame insertions; 34 in-frame deletions
- Prediction scores: 4,128 variants have prediction scores (56% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: atrial fibrillation, prostate carcinoma, type 2 diabetes mellitus, cardioembolic stroke, neurodevelopmental disorder, cardiac arrhythmia, heart failure, atrial flutter, obesity disorder, diabetes mellitus, gastroesophageal reflux disease, prostate adenocarcinoma.
Protein structure and variant hotspots
- Protein features: 16 post-translational modification sites.
- PTM context: 40 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable ZFHX3 variants
Examples include M1?, E2D, E2K, G3S, D5E, D5Y, S6L, P7S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV99194
- E2D (p.Glu2Asp), cosmic curated COSV10586
- E2K (p.Glu2Lys), cosmic curated COSV11414
- G3S (p.Gly3Ser), Ensembl rs1961504386
- D5E (p.Asp5Glu), Ensembl rs12922701, REVEL 0.33, CADD 25.60
- D5Y (p.Asp5Tyr), gnomAD rs1381862487, REVEL 0.66, CADD 26.30
- S6L (p.Ser6Leu), cosmic curated COSV51708, ExAC rs761461147, TOPMed rs761461147, gnomAD rs761461147, REVEL 0.46, CADD 27.50
- P7S (p.Pro7Ser), gnomAD rs1472396845, REVEL 0.57, CADD 25.70
- V8I (p.Val8Ile), rs762496214, ClinGen CA8165133, cosmic curated COSV51737, ClinVar RCV004177132, REVEL 0.23, CADD 19.00, Uncertain significance, not specified
- V9A (p.Val9Ala), TOPMed rs12922324, gnomAD rs12922324, REVEL 0.26, CADD 23.30
- V9F (p.Val9Phe), cosmic curated COSV10877, REVEL 0.25, CADD 22.70
- V9G (p.Val9Gly), TOPMed rs12922324, gnomAD rs12922324
- V9I (p.Val9Ile), rs200637584, NCI-TCGA Cosmic COSV5171, cosmic curated COSV51718, 1000Genomes rs200637584, REVEL 0.12, CADD 14.00, Variant assessed as somatic; moderate impact.
- S10A (p.Ser10Ala), 1000Genomes rs201611935, ExAC rs201611935, TOPMed rs201611935, gnomAD rs201611935, REVEL 0.15, CADD 21.70, Uncertain significance, not specified
- S10L (p.Ser10Leu), cosmic curated COSV51724, 1000Genomes rs12922687, ExAC rs12922687, TOPMed rs12922687, REVEL 0.18, CADD 23.00
- G11E (p.Gly11Glu), TOPMed rs1961502563
- N14D (p.Asn14Asp), TOPMed rs943677091, gnomAD rs943677091, REVEL 0.29, CADD 23.60
- N14S (p.Asn14Ser), NCI-TCGA TCGA novel, Ensembl rs1961502223, REVEL 0.37, CADD 25.20, Variant assessed as somatic; moderate impact.
- C16G (p.Cys16Gly), Ensembl rs2144460056
- C16S (p.Cys16Ser), TOPMed rs1961501932
- G17A (p.Gly17Ala), gnomAD rs1297046272
- G17D (p.Gly17Asp), cosmic curated COSV99196, gnomAD rs1297046272, REVEL 0.20, CADD 21.30
- G17S (p.Gly17Ser), cosmic curated COSV51725, ESP rs376729347, ExAC rs376729347, TOPMed rs376729347, REVEL 0.11, CADD 14.50
- G17V (p.Gly17Val), gnomAD rs1297046272, REVEL 0.27, CADD 23.00
- I18M (p.Ile18Met), 1000Genomes rs552696439, ExAC rs552696439, TOPMed rs552696439, gnomAD rs552696439, REVEL 0.26, CADD 22.50, Likely benign
- I18S (p.Ile18Ser), cosmic curated COSV51723
- I18T (p.Ile18Thr), rs1397685131, NCI-TCGA Cosmic COSV5172, gnomAD rs1397685131, REVEL 0.26, CADD 18.00, Variant assessed as somatic; moderate impact.
- I18V (p.Ile18Val), Ensembl rs1961501397
- P19R (p.Pro19Arg), Ensembl rs932382218, REVEL 0.35, CADD 24.20
- Q20E (p.Gln20Glu), cosmic curated COSV51711
- Q20H (p.Gln20His), ESP rs374987997, ExAC rs374987997, TOPMed rs374987997, gnomAD rs374987997, REVEL 0.26, CADD 24.50, Uncertain significance, not specified
- Q20P (p.Gln20Pro), gnomAD rs1159526635, REVEL 0.37, CADD 24.50
- H21Y (p.His21Tyr), rs1411518493, ClinGen CA396741843, ClinVar RCV003896299, gnomAD rs1411518493, Uncertain significance, ZFHX3-related disorder
- Q22E (p.Gln22Glu), TOPMed rs1783301194
- Q22H (p.Gln22His), ExAC rs755888505, TOPMed rs755888505, gnomAD rs755888505, Uncertain significance, not specified
- Q22P (p.Gln22Pro), ExAC rs779159582
- Q23* (p.Gln23Ter), gnomAD rs1418596751, CADD 43.00
- W24* (p.Trp24Ter), cosmic curated COSV51711
- W24R (p.Trp24Arg), gnomAD rs1193072573, REVEL 0.44, CADD 26.70
- T25N (p.Thr25Asn), ExAC rs750212096, gnomAD rs750212096, REVEL 0.28, CADD 25.10
- E26* (p.Glu26Ter), rs2507215421, ClinGen CA396741804, ClinVar RCV004555973, Uncertain significance
- E26D (p.Glu26Asp), Ensembl rs1597020152
- L27H (p.Leu27His), Ensembl rs2144459787
- L27I (p.Leu27Ile), Ensembl rs1961499688, REVEL 0.24, CADD 24.50
- S29N (p.Ser29Asn), gnomAD rs1244094531, REVEL 0.23, CADD 15.20
- S29T (p.Ser29Thr), gnomAD rs1244094531
- T30I (p.Thr30Ile), NCI-TCGA Cosmic COSV9921, cosmic curated COSV99214, Ensembl rs1961499201, REVEL 0.21, CADD 24.70, Variant assessed as somatic; moderate impact.
- T30P (p.Thr30Pro), Ensembl rs1597020129
- T30S (p.Thr30Ser), Ensembl rs1961499201, REVEL 0.14, CADD 20.60
- H31N (p.His31Asn), NCI-TCGA Cosmic COSV5173, cosmic curated COSV51735, Variant assessed as somatic; moderate impact.
- H31P (p.His31Pro), Ensembl rs1597020121
- L32P (p.Leu32Pro), TOPMed rs1392972897, gnomAD rs1392972897, REVEL 0.36, CADD 23.70
- L32V (p.Leu32Val), ExAC rs767605585, gnomAD rs767605585, REVEL 0.25, CADD 20.60
- P33H (p.Pro33His), NCI-TCGA Cosmic COSV5172, cosmic curated COSV51722, Variant assessed as somatic; moderate impact.
- P33R (p.Pro33Arg), Ensembl rs1961498508
- P33S (p.Pro33Ser), ExAC rs757253419, gnomAD rs757253419
- D34N (p.Asp34Asn), TOPMed rs1961498380
- K35N (p.Lys35Asn), Ensembl rs1597020088
- K35Q (p.Lys35Gln), rs2507215176, ClinGen CA396741744, ClinVar RCV004306307, Uncertain significance, not specified
- K35T (p.Lys35Thr), Ensembl rs1961498247
- P36L (p.Pro36Leu), TOPMed rs1167713053, gnomAD rs1167713053, REVEL 0.17, CADD 22.40, Uncertain significance, not specified
- P36R (p.Pro36Arg), TOPMed rs1167713053, gnomAD rs1167713053, Uncertain significance
- S37G (p.Ser37Gly), ESP rs370366739, ExAC rs370366739, TOPMed rs370366739, gnomAD rs370366739, REVEL 0.18, CADD 15.70
- S38G (p.Ser38Gly), gnomAD rs1336125621
- S38R (p.Ser38Arg), ExAC rs775036562, gnomAD rs775036562, REVEL 0.31, CADD 24.40
- S38T (p.Ser38Thr), ExAC rs762454534, REVEL 0.30, CADD 23.50
- M39L (p.Met39Leu), ExAC rs764894848, TOPMed rs764894848, gnomAD rs764894848
- M39T (p.Met39Thr), ESP rs372426520, ExAC rs372426520, TOPMed rs372426520, gnomAD rs372426520, REVEL 0.34, CADD 23.50, Uncertain significance, not provided; not specified
- M39V (p.Met39Val), cosmic curated COSV51715, ExAC rs764894848, TOPMed rs764894848, gnomAD rs764894848, REVEL 0.33, CADD 22.80
- E40D (p.Glu40Asp), cosmic curated COSV11414
- E40Q (p.Glu40Gln), TOPMed rs1961496953, REVEL 0.29, CADD 24.10
- E40V (p.Glu40Val), gnomAD rs1289147725, REVEL 0.47, CADD 26.10
- Q41* (p.Gln41Ter), Ensembl rs2144459344
- Q41R (p.Gln41Arg), ExAC rs771487918, gnomAD rs771487918, REVEL 0.22, CADD 17.30
- S42C (p.Ser42Cys), ExAC rs747528660, gnomAD rs747528660, REVEL 0.24, CADD 24.60
- S42P (p.Ser42Pro), rs2144459309, ClinGen CA396741692, NCI-TCGA Cosmic COSV5170, cosmic curated COSV51708, REVEL 0.08, CADD 11.90, Likely benign, not specified
- S42T (p.Ser42Thr), cosmic curated COSV10804
- T43A (p.Thr43Ala), rs2507214846, ClinGen CA396741688, ClinVar RCV004306311, REVEL 0.11, CADD 5.98, Uncertain significance, not specified
- T43I (p.Thr43Ile), ExAC rs772079187, TOPMed rs772079187, gnomAD rs772079187, REVEL 0.15, CADD 18.40, Uncertain significance, not specified
- G44D (p.Gly44Asp), ExAC rs748214815, gnomAD rs748214815, REVEL 0.18, CADD 16.60
- G44S (p.Gly44Ser), rs1170016765, ClinGen CA396741684, ClinVar RCV004306312, gnomAD rs1170016765, REVEL 0.12, CADD 12.80, Likely benign, not specified
- E45K (p.Glu45Lys), rs1187392987, TOPMed rs1187392987, gnomAD rs1187392987, REVEL 0.24, CADD 22.90, Variant assessed as somatic; moderate impact.
- S46N (p.Ser46Asn), gnomAD rs1477825357, REVEL 0.09, CADD 0.48
- H47D (p.His47Asp), ExAC rs745714460, TOPMed rs745714460, gnomAD rs745714460, REVEL 0.25, CADD 20.80
- H47L (p.His47Leu), Ensembl rs2144459116
- H47P (p.His47Pro), Ensembl rs2144459116
- H47Q (p.His47Gln), rs116519588, ClinGen CA8165102, cosmic curated COSV99064, ClinVar RCV003911792, REVEL 0.17, CADD 18.00, Likely benign, not provided
- H47Y (p.His47Tyr), cosmic curated COSV10457
- G48E (p.Gly48Glu), ExAC rs777812986, gnomAD rs777812986, REVEL 0.25, CADD 22.00
- G48R (p.Gly48Arg), cosmic curated COSV51716, ExAC rs751544438, TOPMed rs751544438, gnomAD rs751544438, REVEL 0.26, CADD 23.30
- G48W (p.Gly48Trp), cosmic curated COSV51726, ExAC rs751544438, TOPMed rs751544438, gnomAD rs751544438
- G48C (p.Gly48Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P49S (p.Pro49Ser), cosmic curated COSV51724, Ensembl rs2144459046
- L50S (p.Leu50Ser), ESP rs139894877, ExAC rs139894877, TOPMed rs139894877, gnomAD rs139894877, REVEL 0.29, CADD 22.80, Uncertain significance, not specified
- D51H (p.Asp51His), ESP rs376506658, ExAC rs376506658, TOPMed rs376506658, gnomAD rs376506658, REVEL 0.38, CADD 24.80
- D51N (p.Asp51Asn), cosmic curated COSV51734, ESP rs376506658, ExAC rs376506658, TOPMed rs376506658, REVEL 0.29, CADD 22.50
- D51V (p.Asp51Val), Ensembl rs2144458990
- D51Y (p.Asp51Tyr), ESP rs376506658, ExAC rs376506658, TOPMed rs376506658, gnomAD rs376506658, REVEL 0.40, CADD 25.00, Uncertain significance, not specified
- S52N (p.Ser52Asn), gnomAD rs1295680223
- S52R (p.Ser52Arg), cosmic curated COSV10958, Ensembl rs1961494411, REVEL 0.16, CADD 23.30
- L53M (p.Leu53Met), cosmic curated COSV11414
- L53V (p.Leu53Val), Ensembl rs1961494276, REVEL 0.12, CADD 19.00
- R54G (p.Arg54Gly), gnomAD rs1961494141, REVEL 0.32, CADD 23.50
- R54T (p.Arg54Thr), Ensembl rs1961494025, Uncertain significance, not specified
- A55D (p.Ala55Asp), cosmic curated COSV51721, REVEL 0.20, CADD 22.90
- A55G (p.Ala55Gly), Ensembl rs1961493810, REVEL 0.14, CADD 19.90
- A55P (p.Ala55Pro), TOPMed rs1961493912
- A55T (p.Ala55Thr), cosmic curated COSV51742, TOPMed rs1961493912, REVEL 0.17, CADD 14.90
- A55V (p.Ala55Val), Ensembl rs1961493810, REVEL 0.18, CADD 19.80
- P56R (p.Pro56Arg), cosmic curated COSV10958
- F57Y (p.Phe57Tyr), gnomAD rs1365083617
- N58S (p.Asn58Ser), ESP rs371765071, ExAC rs371765071, TOPMed rs371765071, gnomAD rs371765071, REVEL 0.10, CADD 13.40
- E59A (p.Glu59Ala), ExAC rs760988899, gnomAD rs760988899, REVEL 0.25, CADD 22.10
- E59G (p.Glu59Gly), ExAC rs760988899, gnomAD rs760988899
- R60C (p.Arg60Cys), rs200390317, NCI-TCGA Cosmic COSV1043, NCI-TCGA Cosmic COSV5170, cosmic curated COSV51709, REVEL 0.13, CADD 22.80, Variant assessed as somatic; moderate impact.
- R60H (p.Arg60His), ExAC rs761842147, TOPMed rs761842147, gnomAD rs761842147, REVEL 0.12, CADD 16.80
- R60L (p.Arg60Leu), ExAC rs761842147, TOPMed rs761842147, gnomAD rs761842147, REVEL 0.11, CADD 16.80
- R60S (p.Arg60Ser), cosmic curated COSV10439
- L61F (p.Leu61Phe), Ensembl rs2144458693
- L61I (p.Leu61Ile), cosmic curated COSV11414
- A62E (p.Ala62Glu), cosmic curated COSV11414, 1000Genomes rs62639999, ESP rs62639999, ExAC rs62639999, REVEL 0.12, CADD 8.76, Benign
- A62S (p.Ala62Ser), ExAC rs756319969, TOPMed rs756319969, gnomAD rs756319969, REVEL 0.10, CADD 4.97
- A62T (p.Ala62Thr), rs756319969, NCI-TCGA Cosmic COSV5170, cosmic curated COSV51708, ExAC rs756319969, REVEL 0.08, CADD 12.70, Variant assessed as somatic; moderate impact.
- A62V (p.Ala62Val), rs62639999, ClinGen CA8165088, cosmic curated COSV51738, ClinVar RCV003979506, REVEL 0.13, CADD 10.80, Benign, ZFHX3-related disorder
- E63D (p.Glu63Asp), ExAC rs780352785, gnomAD rs780352785, REVEL 0.13, CADD 6.01
- S64C (p.Ser64Cys), gnomAD rs1455024159, REVEL 0.32, CADD 16.30
- S64I (p.Ser64Ile), Ensembl rs1961491686, REVEL 0.24, CADD 23.10, Uncertain significance, not specified
- S64R (p.Ser64Arg), gnomAD rs1455024159, REVEL 0.34, CADD 19.70
- T65I (p.Thr65Ile), Ensembl rs1567607335, REVEL 0.20, CADD 7.20
- T65P (p.Thr65Pro), ExAC rs746750953, gnomAD rs746750953, REVEL 0.15, CADD 0.03
- T65S (p.Thr65Ser), ExAC rs746750953, gnomAD rs746750953, REVEL 0.09, CADD 0.00
- A66E (p.Ala66Glu), rs778500476, NCI-TCGA Cosmic COSV5171, ExAC rs778500476, TOPMed rs778500476, REVEL 0.20, CADD 3.36, Variant assessed as somatic; moderate impact.
- A66P (p.Ala66Pro), ExAC rs758323451, TOPMed rs758323451, gnomAD rs758323451, Uncertain significance
- A66T (p.Ala66Thr), rs758323451, ClinGen CA8165082, NCI-TCGA Cosmic COSV5171, cosmic curated COSV51710, REVEL 0.21, CADD 1.38, Uncertain significance, not specified
- A66V (p.Ala66Val), cosmic curated COSV51713, ExAC rs778500476, TOPMed rs778500476, gnomAD rs778500476, REVEL 0.15, CADD 8.08
- S67L (p.Ser67Leu), cosmic curated COSV51735, 1000Genomes rs372931285, ESP rs372931285, ExAC rs372931285, REVEL 0.16, CADD 15.00
- S67P (p.Ser67Pro), TOPMed rs891634906, gnomAD rs891634906, REVEL 0.21, CADD 2.68
- S67T (p.Ser67Thr), TOPMed rs891634906, gnomAD rs891634906
- A68D (p.Ala68Asp), ExAC rs767978826
- A68P (p.Ala68Pro), rs750757698, ClinGen CA283728131, ClinVar RCV004279218, ExAC rs750757698, REVEL 0.25, CADD 18.80, Uncertain significance, not specified
- A68T (p.Ala68Thr), cosmic curated COSV11414, ExAC rs750757698, TOPMed rs750757698, gnomAD rs750757698, REVEL 0.22, CADD 17.30, Uncertain significance
- A68V (p.Ala68Val), ExAC rs767978826, REVEL 0.26, CADD 22.40
- G69T (p.Gly69Thr), NCI-TCGA Cosmic COSV5172, Variant assessed as somatic; moderate impact.
- G69R (p.Gly69Arg), cosmic curated COSV10727, ExAC rs768781705, TOPMed rs768781705, gnomAD rs768781705, REVEL 0.20, CADD 22.70
- G69V (p.Gly69Val), cosmic curated COSV51712, ExAC rs763083062
- P70A (p.Pro70Ala), TOPMed rs1373994234, gnomAD rs1373994234, REVEL 0.18, CADD 1.92
- P70L (p.Pro70Leu), ExAC rs770118045, gnomAD rs770118045, REVEL 0.14, CADD 15.90
- P70R (p.Pro70Arg), ExAC rs770118045, gnomAD rs770118045, REVEL 0.13, CADD 15.40
- P70S (p.Pro70Ser), TOPMed rs1373994234, gnomAD rs1373994234, REVEL 0.10, CADD 7.72
- P70T (p.Pro70Thr), TOPMed rs1373994234, gnomAD rs1373994234, REVEL 0.13, CADD 7.85
- P71H (p.Pro71His), ESP rs374747520, ExAC rs374747520, TOPMed rs374747520, gnomAD rs374747520, REVEL 0.25, CADD 20.20
- P71L (p.Pro71Leu), cosmic curated COSV51734, ESP rs374747520, ExAC rs374747520, TOPMed rs374747520, REVEL 0.21, CADD 17.20
- P71R (p.Pro71Arg), ESP rs374747520, ExAC rs374747520, TOPMed rs374747520, gnomAD rs374747520, REVEL 0.20, CADD 16.40, Uncertain significance, not specified
- P71S (p.Pro71Ser), TOPMed rs1597019583, REVEL 0.06, CADD 0.42
- S72A (p.Ser72Ala), rs7193297, ClinGen CA8165062, cosmic curated COSV51707, ClinVar RCV003984575, REVEL 0.21, CADD 10.80, Benign, not specified
- S72C (p.Ser72Cys), cosmic curated COSV51734
- S72F (p.Ser72Phe), NCI-TCGA Cosmic COSV5171, cosmic curated COSV51717, NCI-TCGA Cosmic COSV5173, Variant assessed as somatic; moderate impact.
- S72Y (p.Ser72Tyr), rs748777710, NCI-TCGA Cosmic COSV5171, NCI-TCGA Cosmic COSV5173, ExAC rs748777710, Variant assessed as somatic; moderate impact.
- E73* (p.Glu73Ter), NCI-TCGA Cosmic COSV5172, cosmic curated COSV51724, ESP rs371922710, ExAC rs371922710, CADD 41.00, Variant assessed as somatic; high impact.
- E73A (p.Glu73Ala), NCI-TCGA TCGA novel, Ensembl rs2144458084, Variant assessed as somatic; moderate impact.
- E73D (p.Glu73Asp), ExAC rs767935330, TOPMed rs767935330, gnomAD rs767935330, REVEL 0.20, CADD 20.70, Uncertain significance, not provided
- E73G (p.Glu73Gly), Ensembl rs2144458084
- E73K (p.Glu73Lys), cosmic curated COSV51734, ESP rs371922710, ExAC rs371922710, TOPMed rs371922710, REVEL 0.25, CADD 23.10, Likely benign, not provided
- E73Q (p.Glu73Gln), ESP rs371922710, ExAC rs371922710, TOPMed rs371922710, gnomAD rs371922710
- P74A (p.Pro74Ala), cosmic curated COSV51714
- P74L (p.Pro74Leu), NCI-TCGA Cosmic COSV5171, cosmic curated COSV51717, Variant assessed as somatic; moderate impact.
- P74S (p.Pro74Ser), ExAC rs757494633, gnomAD rs757494633, REVEL 0.18, CADD 12.90
- A75G (p.Ala75Gly), cosmic curated COSV10877
- A75P (p.Ala75Pro), ESP rs374552910, ExAC rs374552910, TOPMed rs374552910, gnomAD rs374552910
- A75S (p.Ala75Ser), ESP rs374552910, ExAC rs374552910, TOPMed rs374552910, gnomAD rs374552910, REVEL 0.23, CADD 10.50
- A75T (p.Ala75Thr), cosmic curated COSV10958, ESP rs374552910, ExAC rs374552910, TOPMed rs374552910, REVEL 0.27, CADD 20.50
- S76C (p.Ser76Cys), ExAC rs543893560, TOPMed rs543893560, gnomAD rs543893560, Uncertain significance
- S76G (p.Ser76Gly), rs543893560, ClinGen CA8165051, ClinVar RCV003419448, ExAC rs543893560, REVEL 0.08, CADD 8.54, Conflicting interpretations, not provided
- S76I (p.Ser76Ile), Ensembl rs2144457935, REVEL 0.20, CADD 20.30
- S76N (p.Ser76Asn), Ensembl rs2144457935
- S76R (p.Ser76Arg), ExAC rs543893560, TOPMed rs543893560, gnomAD rs543893560, REVEL 0.19, CADD 22.70, Uncertain significance
- E78D (p.Glu78Asp), ExAC rs771934671, TOPMed rs771934671, gnomAD rs771934671, REVEL 0.27, CADD 23.50, Uncertain significance, not specified
- E78V (p.Glu78Val), Ensembl rs1961485844, REVEL 0.52, CADD 25.40
- V79G (p.Val79Gly), Ensembl rs2144457862, REVEL 0.51, CADD 25.50
- V79L (p.Val79Leu), Ensembl rs2144457873
Public ZFHX3 analysis runs
- ZFHX3 analysis run — ZFHX3 (7,388 variants) — completed 2026-09-28