GATA4 (Transcription factor GATA-4) variants and mutations
GATA4 (also known as Transcription factor GATA-4) is a human protein-coding gene encoding a transcription factor GATA-4 protein. It controls cardiac development and adult cardiac gene expression and also contributes to gonadal and gastrointestinal development. Heterozygous pathogenic variants can cause congenital heart defects, particularly septal defects, and occasionally cardiomyopathy or disorders of sex development. This analysis covers 1,266 GATA4 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes atrial septal defect 2, ventricular septal defect 1, and atrioventricular septal defect 4. Example GATA4 variants include Y2N, Y2H, and Y2F.
Variant analysis overview
- Gene: GATA4
- Protein: Transcription factor GATA-4
- UniProt accession: P43694
- Organism: Homo sapiens
- Variants analyzed: 1266
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 808 unspecified-consequence records; 288 missense variants; 121 synonymous variants; 15 stop-gained variants; 3 in-frame insertions; 6 in-frame deletions; 23 frameshift variants; 3 substitution
- Prediction scores: 922 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: atrial septal defect 2, ventricular septal defect 1, atrioventricular septal defect 4, Tetralogy of Fallot, congenital heart disease, neurodegenerative disease, 46,XY partial gonadal dysgenesis, testicular anomalies with or without congenital heart disease, pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia - diabetes - congenital heart disease, atrial septal defect, hypertensive disorder.
Protein structure and variant hotspots
- Protein features: 1 post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable GATA4 variants
Examples include Y2N, Y2H, Y2F, Y2Y, Y2*, Q3*, Q3E, Q3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- Y2N (p.Tyr2Asn), Ensembl rs1799986555
- Y2H (p.Tyr2His), gnomAD 8-11708316-T-C, REVEL 0.88, CADD 26.50
- Y2F (p.Tyr2Phe), gnomAD 8-11708317-A-T, REVEL 0.87, CADD 25.90
- Y2Y (p.Tyr2Tyr), rs1464022807, gnomAD 8-11708318-T-C, CADD 9.28
- Y2* (p.Tyr2Ter), gnomAD 8-11708318-T-A, CADD 34.00
- Q3* (p.Gln3Ter), cosmic curated COSV10589, gnomAD rs1446210727, CADD 45.00
- Q3E (p.Gln3Glu), rs1446210727, ClinGen CA370308415, ClinVar RCV003436736, ClinVar RCV005100061, REVEL 0.83, MetaLR 0.96, Uncertain significance, Atrioventricular septal defect 4; not provided
- Q3P (p.Gln3Pro), rs374132087, ClinGen CA4630587, ClinVar RCV000532794, ClinVar RCV001580514, REVEL 0.88, MetaLR 0.95, Uncertain significance, not provided; Atrioventricular septal defect 4
- Q3K (p.Gln3Lys), gnomAD 8-11708319-C-A, REVEL 0.86, CADD 28.10
- Q3R (p.Gln3Arg), gnomAD 8-11708320-A-G, REVEL 0.85, CADD 25.60
- Q3L (p.Gln3Leu), gnomAD 8-11708320-A-T, REVEL 0.91, CADD 26.50
- Q3H (p.Gln3His), gnomAD 8-11708321-G-T, REVEL 0.75, CADD 29.20
- S4N (p.Ser4Asn), rs1421266458, ClinGen CA370308434, ClinVar RCV003528559, ClinVar RCV004992626, REVEL 0.70, MetaLR 0.94, Uncertain significance, Atrioventricular septal defect 4; Cardiovascular phenotype
- S4R (p.Ser4Arg), rs1247823780, TOPMed rs1247823780, gnomAD rs1247823780, ClinGen CA370308437, REVEL 0.75, MetaLR 0.95, Uncertain significance, Atrioventricular septal defect 4
- S4T (p.Ser4Thr), gnomAD 8-11708323-G-C, REVEL 0.64, CADD 23.10
- S4I (p.Ser4Ile), gnomAD 8-11708323-G-T, REVEL 0.89, CADD 28.50
- S4S (p.Ser4Ser), rs1247823780, gnomAD 8-11708324-C-T, CADD 14.70
- L5F (p.Leu5Phe), ExAC rs55635838, TOPMed rs55635838, gnomAD rs55635838, REVEL 0.69, MetaLR 0.94, Uncertain significance, Atrioventricular septal defect 4; Cardiovascular phenotype
- L5L (p.Leu5Leu), rs55670878, gnomAD 8-11708325-T-C, CADD 10.30
- L5* (p.Leu5Ter), gnomAD 8-11708326-T-A, CADD 37.00
- L5W (p.Leu5Trp), gnomAD 8-11708326-T-G, REVEL 0.84, CADD 27.00
- A6D (p.Ala6Asp), cosmic curated COSV10884, 1000Genomes rs199922907, ExAC rs199922907, TOPMed rs199922907, REVEL 0.86, MetaLR 0.25, Uncertain significance, in VSD1
- A6P (p.Ala6Pro), TOPMed rs1585594547
- A6V (p.Ala6Val), rs199922907, NCI-TCGA Cosmic COSV5873, cosmic curated COSV58732, UniProt VAR 067605, REVEL 0.77, MetaLR 0.18, Uncertain significance, not provided; Atrioventricular septal defect 4
- A6T (p.Ala6Thr), gnomAD 8-11708328-G-A, REVEL 0.58, CADD 23.50
- A6S (p.Ala6Ser), gnomAD 8-11708328-G-T, REVEL 0.63, CADD 25.30
- A6G (p.Ala6Gly), gnomAD 8-11708329-C-G, REVEL 0.76, CADD 24.90
- A6A (p.Ala6Ala), gnomAD 8-11708330-C-T, CADD 13.90
- M7I (p.Met7Ile), gnomAD rs1161609876, REVEL 0.72, MetaLR 0.12
- M7V (p.Met7Val), rs899023750, ClinGen CA172074370, cosmic curated COSV10063, ClinVar RCV001050156, REVEL 0.77, MetaLR 0.91, Uncertain significance, Atrioventricular septal defect 4
- M7L (p.Met7Leu), gnomAD 8-11708331-A-C, REVEL 0.67, CADD 22.80
- M7R (p.Met7Arg), gnomAD 8-11708332-T-G, REVEL 0.89, CADD 27.40
- A8D (p.Ala8Asp), rs864321698, ClinGen CA347945, ClinVar RCV000203585, gnomAD rs864321698, Pathogenic, Congenital heart disease
- A8S (p.Ala8Ser), rs1386678141, ClinGen CA370308492, ClinVar RCV001056166, TOPMed rs1386678141, REVEL 0.52, MetaLR 0.20, Uncertain significance, Atrioventricular septal defect 4
- A8V (p.Ala8Val), gnomAD rs864321698, REVEL 0.71, MetaLR 0.29, Pathogenic
- A8T (p.Ala8Thr), gnomAD 8-11708334-G-A, REVEL 0.49, CADD 22.40
- A8A (p.Ala8Ala), rs1324224105, gnomAD 8-11708336-C-G, CADD 11.90
- A9D (p.Ala9Asp), gnomAD rs1434211242, REVEL 0.83, MetaLR 0.25
- A9P (p.Ala9Pro), rs864321699, UniProt VAR 071514, TOPMed rs864321699, gnomAD rs864321699, Pathogenic, in TOF
- A9T (p.Ala9Thr), rs864321699, ClinGen CA347953, ClinVar RCV000203597, ClinVar RCV002470814, REVEL 0.46, MetaLR 0.83, Uncertain significance, Tetralogy of Fallot
- A9S (p.Ala9Ser), gnomAD 8-11708337-G-T, REVEL 0.45, CADD 19.90
- A9A (p.Ala9Ala), rs864321703, gnomAD 8-11708339-C-A, CADD 14.20
- N10I (p.Asn10Ile), Ensembl rs2130066706
- N10K (p.Asn10Lys), rs1274085631, ClinGen CA370308526, ClinVar RCV001874616, ClinVar RCV002324261, REVEL 0.69, MetaLR 0.16, Uncertain significance, Cardiovascular phenotype; Atrioventricular septal defect 4; not provided
- N10Y (p.Asn10Tyr), gnomAD 8-11708340-A-T, REVEL 0.85, CADD 27.40
- N10T (p.Asn10Thr), gnomAD 8-11708341-A-C, REVEL 0.69, CADD 23.70
- N10N (p.Asn10Asn), rs1274085631, gnomAD 8-11708342-C-T, CADD 12.90
- H11N (p.His11Asn), rs1350855665, ClinGen CA370308532, ClinVar RCV001203089, gnomAD rs1350855665, REVEL 0.69, MetaLR 0.91, Uncertain significance, Atrioventricular septal defect 4
- H11P (p.His11Pro), rs1585594672, ClinGen CA370308538, ClinVar RCV003002646, ClinVar RCV004721098, REVEL 0.49, MetaLR 0.11, Uncertain significance, Atrioventricular septal defect 4; not provided
- H11R (p.His11Arg), Ensembl rs1585594672, REVEL 0.73, MetaLR 0.20
- H11Y (p.His11Tyr), gnomAD rs1350855665, REVEL 0.71, MetaLR 0.93, Uncertain significance
- H11L (p.His11Leu), gnomAD 8-11708344-A-T, REVEL 0.79, CADD 25.00
- H11H (p.His11His), gnomAD 8-11708345-C-T, CADD 11.40
- H11Q (p.His11Gln), gnomAD 8-11708345-C-A, REVEL 0.58, CADD 22.40
- G12R (p.Gly12Arg), rs750597721, ClinGen CA4630591, ClinVar RCV000798672, ClinVar RCV001251996, REVEL 0.87, MetaLR 0.95, Uncertain significance, Primary dilated cardiomyopathy; not provided; Atrioventricular septal defect 4
- G12W (p.Gly12Trp), rs750597721, ClinGen CA370308550, ClinVar RCV003073610, ClinVar RCV006342739, REVEL 0.87, MetaLR 0.96, Uncertain significance, Cardiovascular phenotype; Atrioventricular septal defect 4
- G12E (p.Gly12Glu), gnomAD 8-11708347-G-A, REVEL 0.88, CADD 25.30
- G12V (p.Gly12Val), gnomAD 8-11708347-G-T, REVEL 0.91, CADD 25.30
- G12G (p.Gly12Gly), rs1327988791, gnomAD 8-11708348-G-A, CADD 2.82
- P13L (p.Pro13Leu), ExAC rs760824175, gnomAD rs760824175, REVEL 0.78, MetaLR 0.24
- P13S (p.Pro13Ser), Ensembl rs1799989962, REVEL 0.62, MetaLR 0.93, Uncertain significance, Atrioventricular septal defect 4
- P13T (p.Pro13Thr), gnomAD 8-11708349-C-A, REVEL 0.75, CADD 23.40
- P13Q (p.Pro13Gln), gnomAD 8-11708350-C-A, REVEL 0.59, CADD 22.00
- P13P (p.Pro13Pro), gnomAD 8-11708351-G-T, CADD 7.32
- P14L (p.Pro14Leu), TOPMed rs996317979, gnomAD rs996317979, REVEL 0.55, MetaLR 0.18, Uncertain significance, not provided
- P14R (p.Pro14Arg), rs996317979, ClinGen CA172074401, ClinVar RCV002255198, ClinVar RCV002332946, REVEL 0.57, MetaLR 0.91, Uncertain significance, not provided; Cardiovascular phenotype; Atrioventricular septal defect 4
- P14S (p.Pro14Ser), gnomAD rs1291319592, REVEL 0.32, MetaLR 0.78
- P14T (p.Pro14Thr), gnomAD 8-11708352-C-A, REVEL 0.41, CADD 18.00
- P14H (p.Pro14His), gnomAD 8-11708353-C-A, REVEL 0.41, CADD 21.30
- P14P (p.Pro14Pro), rs1296758455, gnomAD 8-11708354-C-A, CADD 2.41
- P15H (p.Pro15His), rs766466946, ClinGen CA370308601, ClinVar RCV003236211, ClinVar RCV004992587, REVEL 0.55, MetaLR 0.12, Uncertain significance, Atrioventricular septal defect 4; Cardiovascular phenotype; not provided
- P15R (p.Pro15Arg), ExAC rs766466946, gnomAD rs766466946, REVEL 0.59, MetaLR 0.92, Uncertain significance
- P15S (p.Pro15Ser), rs1799990782, ClinGen CA370308599, ClinVar RCV001312530, Ensembl rs1799990782, REVEL 0.33, MetaLR 0.85, Uncertain significance, Atrioventricular septal defect 4
- p.Pro15dup, rs1286102046, gnomAD 8-11708347-G-GGCC, CADD 19.30
- P15T (p.Pro15Thr), gnomAD 8-11708355-C-A, REVEL 0.52, CADD 18.70
- P15L (p.Pro15Leu), gnomAD 8-11708356-C-T, REVEL 0.59, CADD 22.90
- P15P (p.Pro15Pro), gnomAD 8-11708357-C-A, CADD 3.72
- G16A (p.Gly16Ala), gnomAD rs1233489599, REVEL 0.44, MetaLR 0.08
- G16C (p.Gly16Cys), 1000Genomes rs533331682, TOPMed rs533331682, gnomAD rs533331682, REVEL 0.62, MetaLR 0.89, Uncertain significance, Atrioventricular septal defect 4
- G16R (p.Gly16Arg), 1000Genomes rs533331682, TOPMed rs533331682, gnomAD rs533331682, REVEL 0.53, MetaLR 0.89
- G16S (p.Gly16Ser), 1000Genomes rs533331682, TOPMed rs533331682, gnomAD rs533331682, REVEL 0.42, MetaLR 0.87
- G16V (p.Gly16Val), NCI-TCGA TCGA novel, REVEL 0.54, MetaLR 0.09, Variant assessed as somatic; high impact.
- G16D (p.Gly16Asp), gnomAD 8-11708359-G-A, REVEL 0.57, CADD 22.60
- G16G (p.Gly16Gly), gnomAD 8-11708360-T-A, CADD 3.11
- A17C (p.Ala17Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A17T (p.Ala17Thr), gnomAD 8-11708361-G-A, REVEL 0.36, CADD 22.70
- A17S (p.Ala17Ser), gnomAD 8-11708361-G-T, REVEL 0.34, CADD 18.50
- A17V (p.Ala17Val), gnomAD 8-11708362-C-T, REVEL 0.47, CADD 24.00
- A17D (p.Ala17Asp), gnomAD 8-11708362-C-A, REVEL 0.47, CADD 24.00
- A17A (p.Ala17Ala), gnomAD 8-11708363-C-A, CADD 8.31
- Y18* (p.Tyr18Ter), rs1799991762, ClinGen CA370308651, ClinVar RCV001907365, TOPMed rs1799991762, CADD 34.00, Pathogenic
- Y18H (p.Tyr18His), gnomAD rs1184727904, REVEL 0.71, MetaLR 0.96
- p.Tyr18 Ala25del, rs1453901762, gnomAD 8-11708353-CCCCCG, CADD 18.40
- Y18C (p.Tyr18Cys), gnomAD 8-11708365-A-G, REVEL 0.86, CADD 24.00
- Y18Y (p.Tyr18Tyr), gnomAD 8-11708366-C-T, CADD 5.63
- E19K (p.Glu19Lys), rs1139240, ClinGen CA370308657, ClinVar RCV002025031, gnomAD rs1139240, REVEL 0.69, MetaLR 0.93, Uncertain significance, Atrioventricular septal defect 4
- E19Q (p.Glu19Gln), gnomAD rs1139240, REVEL 0.55, MetaLR 0.93, Uncertain significance
- E19* (p.Glu19Ter), gnomAD 8-11708367-G-T, CADD 36.00
- E19G (p.Glu19Gly), gnomAD 8-11708368-A-G, REVEL 0.47, CADD 23.70
- E19V (p.Glu19Val), gnomAD 8-11708368-A-T, REVEL 0.73, CADD 24.70
- E19E (p.Glu19Glu), rs904326251, gnomAD 8-11708369-G-A, CADD 5.88
- E19D (p.Glu19Asp), gnomAD 8-11708369-G-T, REVEL 0.36, CADD 16.10
- A20E (p.Ala20Glu), ExAC rs753775704, TOPMed rs753775704, gnomAD rs753775704, REVEL 0.40, MetaLR 0.78
- A20V (p.Ala20Val), cosmic curated COSV58735, ExAC rs753775704, TOPMed rs753775704, gnomAD rs753775704, REVEL 0.31, MetaLR 0.08
- A20S (p.Ala20Ser), gnomAD 8-11708370-G-T, REVEL 0.30, CADD 5.29
- A20T (p.Ala20Thr), gnomAD 8-11708370-G-A, REVEL 0.36, CADD 8.56
- A20G (p.Ala20Gly), gnomAD 8-11708371-C-G, REVEL 0.33, CADD 18.10
- A20A (p.Ala20Ala), rs551378949, gnomAD 8-11708372-G-T, CADD 2.31
- G21C (p.Gly21Cys), ExAC rs762079549, REVEL 0.67, MetaLR 0.91
- G21S (p.Gly21Ser), ExAC rs762079549, REVEL 0.36, MetaLR 0.86
- G21V (p.Gly21Val), rs202213149, ClinGen CA4630597, ClinVar RCV000621988, 1000Genomes rs202213149, REVEL 0.71, MetaLR 0.90, Uncertain significance, Cardiovascular phenotype
- G21D (p.Gly21Asp), gnomAD 8-11708374-G-A, REVEL 0.56, CADD 23.10
- G21G (p.Gly21Gly), gnomAD 8-11708375-C-G, CADD 10.80
- G22C (p.Gly22Cys), rs2486778757, ClinGen CA370308703, ClinVar RCV002598836, REVEL 0.65, MetaLR 0.92, Uncertain significance, Atrioventricular septal defect 4
- G22D (p.Gly22Asp), cosmic curated COSV58732, ExAC rs758117613, gnomAD rs758117613, REVEL 0.57, MetaLR 0.88, Uncertain significance
- G22S (p.Gly22Ser), rs2486778757, ClinGen CA370308701, ClinVar RCV004395121, REVEL 0.43, MetaLR 0.86, Uncertain significance, Cardiovascular phenotype
- G22V (p.Gly22Val), rs758117613, ClinGen CA4630598, ClinVar RCV003643613, ExAC rs758117613, REVEL 0.70, MetaLR 0.93, Uncertain significance, Atrioventricular septal defect 4
- G22R (p.Gly22Arg), gnomAD 8-11708376-G-C, REVEL 0.64, CADD 25.10
- G22G (p.Gly22Gly), gnomAD 8-11708378-C-A, CADD 9.75
- P23H (p.Pro23His), NCI-TCGA TCGA novel, REVEL 0.49, MetaLR 0.18, Variant assessed as somatic; moderate impact.
- P23L (p.Pro23Leu), cosmic curated COSV10884, REVEL 0.47, MetaLR 0.26
- P23Q (p.Pro23Gln), cosmic curated COSV10063
- P23S (p.Pro23Ser), rs954460490, ClinGen CA370308715, ClinVar RCV003642799, gnomAD rs954460490, REVEL 0.27, MetaLR 0.80, Uncertain significance, Atrioventricular septal defect 4
- P23T (p.Pro23Thr), gnomAD rs954460490, REVEL 0.35, MetaLR 0.90, Uncertain significance, GATA4-related disorder
- P23A (p.Pro23Ala), gnomAD 8-11708379-C-G, REVEL 0.33, CADD 20.10
- P23P (p.Pro23Pro), gnomAD 8-11708381-C-A, CADD 4.03
- G24C (p.Gly24Cys), rs777394438, ClinGen CA370308732, ClinVar RCV004513416, REVEL 0.72, MetaLR 0.95, Uncertain significance, Cardiovascular phenotype
- G24S (p.Gly24Ser), rs777394438, ClinGen CA4630599, ClinVar RCV003529106, ExAC rs777394438, REVEL 0.54, MetaLR 0.85, Uncertain significance, Atrioventricular septal defect 4
- G24A (p.Gly24Ala), gnomAD 8-11708377-GC-G, CADD 23.00
- G24R (p.Gly24Arg), gnomAD 8-11708382-G-C, REVEL 0.73, CADD 25.40
- G24V (p.Gly24Val), gnomAD 8-11708383-G-T, REVEL 0.81, CADD 25.00
- G24D (p.Gly24Asp), gnomAD 8-11708383-G-A, REVEL 0.76, CADD 24.90
- G24G (p.Gly24Gly), gnomAD 8-11708384-C-A, CADD 6.61
- A25V (p.Ala25Val), cosmic curated COSV58732
- A25T (p.Ala25Thr), cosmic curated COSV58736, REVEL 0.35, MetaLR 0.85
- A25S (p.Ala25Ser), gnomAD 8-11708385-G-T, REVEL 0.38, CADD 21.30
- A25G (p.Ala25Gly), gnomAD 8-11708386-C-G, REVEL 0.39, CADD 22.20
- F26V (p.Phe26Val), rs1554488388, ClinGen CA370308765, ClinVar RCV000619136, Ensembl rs1554488388, Uncertain significance, Cardiovascular phenotype
- F26S (p.Phe26Ser), gnomAD 8-11708389-T-C, REVEL 0.86, CADD 26.20
- F26F (p.Phe26Phe), rs1245060668, gnomAD 8-11708390-C-T, CADD 12.60
- F26L (p.Phe26Leu), gnomAD 8-11708390-C-G, REVEL 0.75, CADD 23.20
- M27I (p.Met27Ile), TOPMed rs1799994007, REVEL 0.60, MetaLR 0.83
- M27L (p.Met27Leu), ExAC rs770398681, gnomAD rs770398681, REVEL 0.51, MetaLR 0.67
- M27V (p.Met27Val), cosmic curated COSV58734, REVEL 0.56, MetaLR 0.79
- H28D (p.His28Asp), TOPMed rs1406275331, gnomAD rs1406275331, REVEL 0.93, MetaLR 0.97, Uncertain significance
- H28N (p.His28Asn), TOPMed rs1406275331, gnomAD rs1406275331, REVEL 0.90, MetaLR 0.97, Uncertain significance
- H28R (p.His28Arg), rs534250566, ClinGen CA172074466, ClinVar RCV001373503, 1000Genomes rs534250566, REVEL 0.80, MetaLR 0.23, Uncertain significance, Atrioventricular septal defect 4
- H28Y (p.His28Tyr), rs1406275331, ClinGen CA370308797, ClinVar RCV003037278, TOPMed rs1406275331, REVEL 0.90, MetaLR 0.97, Uncertain significance, Atrioventricular septal defect 4
- H28L (p.His28Leu), gnomAD 8-11708395-A-T, REVEL 0.70, CADD 19.20
- H28H (p.His28His), rs549164979, gnomAD 8-11708396-C-T, CADD 8.21
- H28Q (p.His28Gln), gnomAD 8-11708396-C-A, REVEL 0.84, CADD 23.60
- G29A (p.Gly29Ala), gnomAD rs1291721650, REVEL 0.37, MetaLR 0.78
- G29C (p.Gly29Cys), rs1053092495, ClinGen CA370308809, ClinVar RCV004395122, TOPMed rs1053092495, Uncertain significance, Cardiovascular phenotype
- G29R (p.Gly29Arg), TOPMed rs1053092495, gnomAD rs1053092495, REVEL 0.51, MetaLR 0.81, Likely benign
- G29S (p.Gly29Ser), rs1053092495, ClinGen CA370308807, cosmic curated COSV10524, ClinVar RCV002447986, REVEL 0.41, MetaLR 0.59, Conflicting interpretations, Cardiovascular phenotype; Atrioventricular septal defect 4
- G29del (p.Gly29del), rs1799994543, gnomAD 8-11708395-ACGG-A, CADD 16.70
- G29D (p.Gly29Asp), gnomAD 8-11708398-G-A, REVEL 0.55, CADD 21.60
- G29V (p.Gly29Val), gnomAD 8-11708398-G-T, REVEL 0.61, CADD 21.30
- G29G (p.Gly29Gly), gnomAD 8-11708399-C-T, CADD 6.57
- A30T (p.Ala30Thr), TOPMed rs1799995012, REVEL 0.53, MetaLR 0.91
- A30V (p.Ala30Val), rs749821814, ClinGen CA4630603, ClinVar RCV002975641, ClinVar RCV005575023, REVEL 0.64, MetaLR 0.26, Uncertain significance, Atrioventricular septal defect 4; Cardiovascular phenotype
- A30S (p.Ala30Ser), gnomAD 8-11708400-G-T, REVEL 0.51, CADD 15.00
- A30P (p.Ala30Pro), gnomAD 8-11708400-G-C, REVEL 0.66, CADD 22.50
- A30A (p.Ala30Ala), rs768982638, gnomAD 8-11708402-G-C, CADD 1.77
- G31C (p.Gly31Cys), ExAC rs774778737, gnomAD rs774778737, REVEL 0.64, MetaLR 0.92
- G31S (p.Gly31Ser), ExAC rs774778737, gnomAD rs774778737, REVEL 0.34, MetaLR 0.80
- G31V (p.Gly31Val), ExAC rs762079374, TOPMed rs762079374, gnomAD rs762079374, REVEL 0.51, MetaLR 0.85
- G31D (p.Gly31Asp), gnomAD 8-11708404-G-A, REVEL 0.59, CADD 19.80
- G31G (p.Gly31Gly), gnomAD 8-11708405-C-G, CADD 6.35
- A32P (p.Ala32Pro), rs773545065, ClinGen CA172074520, ClinVar RCV002536540, ClinVar RCV005251214, REVEL 0.56, MetaLR 0.95, Uncertain significance, not provided; Atrioventricular septal defect 4
- A32T (p.Ala32Thr), rs773545065, ClinGen CA4630608, ClinVar RCV000617409, ClinVar RCV001219924, REVEL 0.47, MetaLR 0.92, Uncertain significance, Cardiovascular phenotype; Atrioventricular septal defect 4
- A32S (p.Ala32Ser), gnomAD 8-11708406-G-T, REVEL 0.52, CADD 18.60
- A32D (p.Ala32Asp), gnomAD 8-11708407-C-A, REVEL 0.77, CADD 22.70
- A32V (p.Ala32Val), gnomAD 8-11708407-C-T, REVEL 0.60, CADD 22.70
- A32A (p.Ala32Ala), gnomAD 8-11708408-C-T, CADD 5.04
- A33V (p.Ala33Val), rs989115054, ClinGen CA172074525, ClinVar RCV001986430, ClinVar RCV004990545, REVEL 0.56, MetaLR 0.23, Uncertain significance, Atrioventricular septal defect 4; Cardiovascular phenotype
- A33T (p.Ala33Thr), gnomAD 8-11708409-G-A, REVEL 0.47, CADD 18.60
- A33S (p.Ala33Ser), gnomAD 8-11708409-G-T, REVEL 0.50, CADD 21.70
- A33E (p.Ala33Glu), gnomAD 8-11708410-C-A, REVEL 0.77, CADD 23.10
- A33A (p.Ala33Ala), rs56166237, gnomAD 8-11708411-G-T, CADD 7.39
Public GATA4 analysis runs
- GATA4 analysis run — GATA4 (1,266 variants) — completed 2026-08-22