GATA5 (Transcription factor GATA-5) variants and mutations
GATA5 (also known as Transcription factor GATA-5) is a human protein-coding gene encoding a transcription factor GATA-5 protein. It contributes to transcriptional control of cardiovascular and endodermal development. Rare pathogenic variants have been associated with congenital heart defects and atrial fibrillation, although the strength of evidence varies by variant and phenotype. This analysis covers 795 GATA5 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes congenital heart defects, multiple types, 5, hypertensive disorder, and benign prostatic hyperplasia. Example GATA5 variants include M1?, M1I, and Y2N.
Variant analysis overview
- Gene: GATA5
- Protein: Transcription factor GATA-5
- UniProt accession: Q9BWX5
- Organism: Homo sapiens
- Variants analyzed: 795
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 598 unspecified-consequence records; 3 stop lost; 68 synonymous variants; 104 missense variants; 16 frameshift variants; 1 splice-region variants; 3 stop-gained variants; 5 substitution
- Prediction scores: 719 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital heart defects, multiple types, 5, hypertensive disorder, benign prostatic hyperplasia, essential hypertension, Increased blood pressure, familial bicuspid aortic valve, familial atrial fibrillation, lower urinary tract symptom, Tetralogy of Fallot, neurodegenerative disease, cardiovascular disorder, alcohol drinking.
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, MaveDB, LitVar.
Notable GATA5 variants
Examples include M1?, M1I, Y2N, Q3R, S4T, L5M, L5V, A6E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs2146491023, ClinGen CA409558165, ClinVar RCV001912119, MetaLR 0.97, MetaSVM 1.08, Uncertain significance, not provided
- Y2N (p.Tyr2Asn), Ensembl rs1601520923, REVEL 0.92, MetaLR 0.98
- Q3R (p.Gln3Arg), rs113068438, ClinGen CA346355, ClinVar RCV000157239, ClinVar RCV001689707, REVEL 0.56, MetaLR 0.91, Benign/Likely benign, not provided
- S4T (p.Ser4Thr), rs903053351, ClinGen CA317288681, ClinVar RCV002040410, ClinVar RCV005565118, REVEL 0.49, MetaLR 0.91, Uncertain significance, not specified; not provided
- L5M (p.Leu5Met), NCI-TCGA TCGA novel, REVEL 0.51, MetaLR 0.96, Uncertain significance, not provided
- L5V (p.Leu5Val), rs1324253640, ClinGen CA409558117, ClinVar RCV003669376, ClinVar RCV004324806, REVEL 0.50, MetaLR 0.91, Uncertain significance, not provided; not specified
- A6E (p.Ala6Glu), ExAC rs782762414, TOPMed rs782762414, gnomAD rs782762414, REVEL 0.71, MetaLR 0.96
- A6V (p.Ala6Val), NCI-TCGA TCGA novel, REVEL 0.63, MetaLR 0.96, Variant assessed as somatic; moderate impact.
- L7R (p.Leu7Arg), rs1989838619, ClinGen CA409558091, ClinVar RCV003734498, TOPMed rs1989838619, REVEL 0.79, MetaLR 0.95, Uncertain significance, not provided
- A9G (p.Ala9Gly), 1000Genomes rs564720227, ExAC rs564720227, gnomAD rs564720227, REVEL 0.37, MetaLR 0.87
- A9T (p.Ala9Thr), 1000Genomes rs532016630, ExAC rs532016630, gnomAD rs532016630, REVEL 0.23, MetaLR 0.80
- A9V (p.Ala9Val), 1000Genomes rs564720227, ExAC rs564720227, gnomAD rs564720227, REVEL 0.37, MetaLR 0.84
- S10N (p.Ser10Asn), TOPMed rs1555897094, gnomAD rs1555897094, REVEL 0.31, MetaLR 0.71, Uncertain significance, not provided
- S10R (p.Ser10Arg), rs782819196, ClinGen CA409558050, ClinVar RCV003023359, ExAC rs782819196, REVEL 0.55, MetaLR 0.91, Uncertain significance, not provided
- P11S (p.Pro11Ser), Ensembl rs1989838029, REVEL 0.44, MetaLR 0.91
- R12H (p.Arg12His), ExAC rs782050292, TOPMed rs782050292, gnomAD rs782050292, REVEL 0.29, MetaLR 0.73, Uncertain significance
- R12L (p.Arg12Leu), rs782050292, ClinGen CA409558024, ClinVar RCV002886059, ExAC rs782050292, REVEL 0.34, MetaLR 0.76, Uncertain significance, not provided
- R12S (p.Arg12Ser), TOPMed rs1989837869, REVEL 0.25, MetaLR 0.59
- Q13R (p.Gln13Arg), ExAC rs781942087, TOPMed rs781942087, gnomAD rs781942087, REVEL 0.37, MetaLR 0.87
- A14P (p.Ala14Pro), gnomAD rs1555897092, REVEL 0.18, MetaLR 0.77
- A14T (p.Ala14Thr), gnomAD rs1555897092, REVEL 0.14, MetaLR 0.82
- A14V (p.Ala14Val), rs1232804152, ClinGen CA409557997, ClinVar RCV002999605, TOPMed rs1232804152, REVEL 0.43, MetaLR 0.88, Uncertain significance, not provided
- A15S (p.Ala15Ser), rs1303251290, ClinGen CA409557994, ClinVar RCV002046133, ClinVar RCV004631937, REVEL 0.18, MetaLR 0.82, Uncertain significance, not specified; not provided
- Y16* (p.Tyr16Ter), 1000Genomes rs782349038, ExAC rs782349038, TOPMed rs782349038, gnomAD rs782349038, CADD 35.00, Likely benign, in CHTD5
- Y16C (p.Tyr16Cys), rs1202181267, ClinGen CA409557987, ClinVar RCV003551067, TOPMed rs1202181267, REVEL 0.64, MetaLR 0.98, Uncertain significance, not provided
- Y16D (p.Tyr16Asp), rs1555897088, ClinGen CA409557988, ClinVar RCV000590859, UniProt VAR 073310, AlphaMissense 0.21, MetaLR 0.98, Pathogenic, Congenital heart defects, multiple types, 5
- A17D (p.Ala17Asp), rs781990084, ClinGen CA9946338, ClinVar RCV003551849, ExAC rs781990084, REVEL 0.23, MetaLR 0.76, Uncertain significance, not provided
- A17S (p.Ala17Ser), ExAC rs782108635, gnomAD rs782108635, REVEL 0.16, MetaLR 0.78
- D18G (p.Asp18Gly), Ensembl rs894458923, REVEL 0.47, MetaLR 0.84
- D18N (p.Asp18Asn), ExAC rs782399317, gnomAD rs782399317, REVEL 0.55, MetaLR 0.92, Uncertain significance, not provided
- S19L (p.Ser19Leu), 1000Genomes rs200383755, ExAC rs200383755, TOPMed rs200383755, gnomAD rs200383755, REVEL 0.55, MetaLR 0.91, Uncertain significance, not provided
- S19W (p.Ser19Trp), rs200383755, ClinGen CA9946336, ClinVar RCV000997796, ClinVar RCV003936267, REVEL 0.73, MetaLR 0.95, Conflicting interpretations, Congenital heart defects, multiple types, 5; not provided
- S19A (p.Ser19Ala), rs782108635, []
- G20C (p.Gly20Cys), TOPMed rs1989836166, REVEL 0.62, MetaLR 0.95
- G20V (p.Gly20Val), TOPMed rs1394364493, gnomAD rs1394364493, REVEL 0.66, MetaLR 0.94
- F22L (p.Phe22Leu), ExAC rs782556189, gnomAD rs782556189, REVEL 0.61, MetaLR 0.92
- L23P (p.Leu23Pro), TOPMed rs1173762787, gnomAD rs1173762787, REVEL 0.85, MetaLR 0.97
- L23R (p.Leu23Arg), TOPMed rs1173762787, gnomAD rs1173762787, REVEL 0.74, MetaLR 0.96, Uncertain significance, not provided
- H24Q (p.His24Gln), gnomAD rs1989835497, REVEL 0.53, MetaLR 0.97
- H24Y (p.His24Tyr), rs1382123738, ClinGen CA409557941, ClinVar RCV003561986, TOPMed rs1382123738, REVEL 0.87, MetaLR 0.97, Uncertain significance, not provided
- A25S (p.Ala25Ser), rs1989835436, ClinGen CA409557933, ClinVar RCV001966306, TOPMed rs1989835436, REVEL 0.22, MetaLR 0.53, Uncertain significance, not provided
- P26A (p.Pro26Ala), TOPMed rs1399822264, gnomAD rs1399822264, REVEL 0.14, MetaLR 0.65
- P26L (p.Pro26Leu), rs1989835264, ClinGen CA409557924, ClinVar RCV003412227, ClinVar RCV003549086, REVEL 0.50, MetaLR 0.92, Uncertain significance, GATA5-related disorder; not provided
- P26R (p.Pro26Arg), TOPMed rs1989835264, gnomAD rs1989835264, REVEL 0.43, MetaLR 0.93, Uncertain significance
- G27D (p.Gly27Asp), rs930857802, ClinGen CA317288659, ClinVar RCV001954138, ClinVar RCV005572752, REVEL 0.48, MetaLR 0.86, Uncertain significance, not provided; not specified
- A28V (p.Ala28Val), rs112701160, ClinGen CA9946333, ClinVar RCV001550565, ClinVar RCV003132517, REVEL 0.39, MetaLR 0.90, Uncertain significance, Congenital heart defects, multiple types, 5; not provided
- G29S (p.Gly29Ser), ExAC rs782621711, gnomAD rs782621711, REVEL 0.14, MetaLR 0.75
- S30F (p.Ser30Phe), rs2146490833, ClinGen CA409557904, ClinVar RCV002003234, Ensembl rs2146490833, REVEL 0.86, MetaLR 0.97, Uncertain significance, not provided
- S30P (p.Ser30Pro), rs2516447518, ClinGen CA409557908, ClinVar RCV003053953, REVEL 0.55, MetaLR 0.92, Uncertain significance, not provided
- P31L (p.Pro31Leu), rs1332121694, ClinGen CA409557896, ClinVar RCV002601578, ClinVar RCV004725321, REVEL 0.92, MetaLR 0.98, Uncertain significance, Congenital heart defects, multiple types, 5; not provided
- M32V (p.Met32Val), rs1236049203, ClinGen CA409557894, ClinVar RCV003553542, TOPMed rs1236049203, REVEL 0.29, MetaLR 0.37, Uncertain significance, not provided
- F33S (p.Phe33Ser), gnomAD rs1555897070, REVEL 0.70, MetaLR 0.90
- P35L (p.Pro35Leu), rs730880111, ClinGen CA346357, ClinVar RCV000157240, ClinVar RCV001850182, REVEL 0.83, MetaLR 0.96, Uncertain significance, not provided
- P35S (p.Pro35Ser), gnomAD rs1555897068, REVEL 0.57, MetaLR 0.96, Uncertain significance, not provided
- P36L (p.Pro36Leu), rs2516447479, ClinGen CA409557835, ClinVar RCV003713019, REVEL 0.53, MetaLR 0.88, Uncertain significance, not provided
- A37V (p.Ala37Val), NCI-TCGA TCGA novel, REVEL 0.41, MetaLR 0.86, Variant assessed as somatic; moderate impact.
- R38C (p.Arg38Cys), gnomAD rs1555897065, REVEL 0.86, MetaLR 0.98
- P40R (p.Pro40Arg), rs1555897063, ClinGen CA409557791, ClinVar RCV003559632, gnomAD rs1555897063, REVEL 0.62, MetaLR 0.94, Uncertain significance, not provided
- S41L (p.Ser41Leu), rs1270199168, ClinGen CA409557777, ClinVar RCV002275745, TOPMed rs1270199168, REVEL 0.50, MetaLR 0.94, Uncertain significance, not provided
- M42K (p.Met42Lys), rs1555897054, ClinGen CA409557767, ClinVar RCV002628659, gnomAD rs1555897054, REVEL 0.66, MetaLR 0.95, Uncertain significance, not provided
- L43Q (p.Leu43Gln), rs2146490774, ClinGen CA409557752, ClinVar RCV002031654, Ensembl rs2146490774, AlphaMissense 0.15, MetaLR 0.97, Uncertain significance, not provided
- L43V (p.Leu43Val), rs2516447435, ClinGen CA409557756, ClinVar RCV003723531, REVEL 0.49, MetaLR 0.95, Uncertain significance, not provided
- S44C (p.Ser44Cys), Ensembl rs933755273, REVEL 0.42, MetaLR 0.87
- S44P (p.Ser44Pro), rs781869793, ClinGen CA9946330, ClinVar RCV001574340, ClinVar RCV005572620, REVEL 0.30, MetaLR 0.61, Conflicting interpretations, not specified; not provided
- Y45* (p.Tyr45Ter), gnomAD rs1555897053, CADD 35.00
- Y45F (p.Tyr45Phe), gnomAD rs1989833406, REVEL 0.72, MetaLR 0.98
- Y45H (p.Tyr45His), TOPMed rs1452168504, gnomAD rs1452168504, REVEL 0.77, MetaLR 0.98, Uncertain significance, not provided
- S47T (p.Ser47Thr), Ensembl rs1601520769, REVEL 0.34, MetaLR 0.80
- S47Y (p.Ser47Tyr), TOPMed rs1989833047, REVEL 0.39, MetaLR 0.83
- G48A (p.Gly48Ala), gnomAD rs869025434, REVEL 0.30, MetaLR 0.77, Uncertain significance
- G48V (p.Gly48Val), rs869025434, ClinGen CA351932, ClinVar RCV000208303, ClinVar RCV002515544, REVEL 0.30, MetaLR 0.87, Uncertain significance, not provided
- E50G (p.Glu50Gly), rs1989832554, ClinGen CA409557670, ClinVar RCV002302221, Ensembl rs1989832554, REVEL 0.27, MetaLR 0.76, Uncertain significance, not provided
- E50K (p.Glu50Lys), rs1555897051, ClinGen CA409557675, ClinVar RCV004395123, gnomAD rs1555897051, REVEL 0.47, MetaLR 0.89, Uncertain significance, not specified
- E50Q (p.Glu50Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P51Q (p.Pro51Gln), NCI-TCGA TCGA novel, REVEL 0.43, MetaLR 0.88, Variant assessed as somatic; moderate impact.
- S52I (p.Ser52Ile), rs781995328, ClinGen CA409557644, ClinVar RCV002020832, TOPMed rs781995328, REVEL 0.35, MetaLR 0.88, Uncertain significance, not provided
- S52N (p.Ser52Asn), TOPMed rs781995328, gnomAD rs781995328, REVEL 0.33, MetaLR 0.88, Uncertain significance, not provided
- S52T (p.Ser52Thr), TOPMed rs781995328, gnomAD rs781995328, Uncertain significance
- P53L (p.Pro53Leu), TOPMed rs1159484648, gnomAD rs1159484648, REVEL 0.38, MetaLR 0.82, Uncertain significance, not provided
- Q54E (p.Gln54Glu), rs2516447367, ClinGen CA409557627, ClinVar RCV003671040, REVEL 0.43, MetaLR 0.95, Uncertain significance, not provided
- Q54P (p.Gln54Pro), rs2516447363, ClinGen CA2580098675, ClinVar RCV002305370, REVEL 0.44, MetaLR 0.93, Uncertain significance, not provided
- P55A (p.Pro55Ala), rs111252974, ClinGen CA409557615, ClinVar RCV003565117, TOPMed rs111252974, REVEL 0.32, MetaLR 0.63, Uncertain significance, not provided
- P55L (p.Pro55Leu), rs1555897041, ClinGen CA409557607, ClinVar RCV001883074, TOPMed rs1555897041, REVEL 0.30, MetaLR 0.85, Uncertain significance, not provided
- P55S (p.Pro55Ser), rs111252974, ClinGen CA409557613, ClinVar RCV003856863, TOPMed rs111252974, REVEL 0.28, MetaLR 0.72, Uncertain significance, not provided
- P55T (p.Pro55Thr), TOPMed rs111252974, gnomAD rs111252974, REVEL 0.30, MetaLR 0.79, Uncertain significance
- P56L (p.Pro56Leu), Ensembl rs1555897038, REVEL 0.34, MetaLR 0.88
- L58F (p.Leu58Phe), TOPMed rs1555897036, gnomAD rs1555897036, REVEL 0.34, MetaLR 0.90
- L58I (p.Leu58Ile), TOPMed rs1555897036, gnomAD rs1555897036, REVEL 0.25, MetaLR 0.84
- A59P (p.Ala59Pro), rs1327408328, ClinGen CA409557564, ClinVar RCV001890166, TOPMed rs1327408328, REVEL 0.28, MetaLR 0.88, Uncertain significance, not provided
- A59S (p.Ala59Ser), rs1327408328, ClinGen CA409557560, ClinVar RCV003661674, TOPMed rs1327408328, REVEL 0.20, MetaLR 0.70, Uncertain significance, not provided
- A60E (p.Ala60Glu), TOPMed rs1410475805, gnomAD rs1410475805, REVEL 0.29, MetaLR 0.81
- A60V (p.Ala60Val), TOPMed rs1410475805, gnomAD rs1410475805, REVEL 0.30, MetaLR 0.82
- R61C (p.Arg61Cys), rs782403666, ClinGen CA317288629, ClinVar RCV001943787, TOPMed rs782403666, REVEL 0.41, MetaLR 0.78, Uncertain significance, not provided
- P62R (p.Pro62Arg), TOPMed rs1332879789, gnomAD rs1332879789, REVEL 0.46, MetaLR 0.93
- P62T (p.Pro62Thr), rs2146490671, ClinGen CA409557534, ClinVar RCV001984407, Ensembl rs2146490671, REVEL 0.41, MetaLR 0.86, Uncertain significance, not provided
- G63A (p.Gly63Ala), rs1264711333, ClinGen CA409557517, ClinVar RCV001923578, TOPMed rs1264711333, REVEL 0.27, MetaLR 0.82, Uncertain significance, not provided
- G63D (p.Gly63Asp), TOPMed rs1264711333, REVEL 0.40, MetaLR 0.92, Uncertain significance
- G63R (p.Gly63Arg), Ensembl rs975107982, REVEL 0.35, MetaLR 0.92, Uncertain significance
- G63S (p.Gly63Ser), rs975107982, ClinGen CA317288626, ClinVar RCV002001056, Ensembl rs975107982, REVEL 0.35, MetaLR 0.74, Uncertain significance, not provided
- W64* (p.Trp64Ter), ExAC rs782667889, gnomAD rs782667889, CADD 37.00
- A65E (p.Ala65Glu), rs1555897030, ClinGen CA409557495, ClinVar RCV001964748, gnomAD rs1555897030, REVEL 0.43, MetaLR 0.94, Uncertain significance, not provided
- A65V (p.Ala65Val), gnomAD rs1555897030, REVEL 0.43, MetaLR 0.93, Uncertain significance
- Q66K (p.Gln66Lys), gnomAD rs1555897029, REVEL 0.65, MetaLR 0.95
- Q66L (p.Gln66Leu), TOPMed rs1989829608
- T67P (p.Thr67Pro), rs6142775, ClinGen CA9946328, ClinVar RCV001573831, ClinVar RCV001724365, REVEL 0.29, MetaLR 0.01, Benign, not specified; not provided
- A68D (p.Ala68Asp), gnomAD rs1555897027, REVEL 0.35, MetaLR 0.90
- A68P (p.Ala68Pro), rs2146490622, ClinGen CA409557462, ClinVar RCV001878301, Ensembl rs2146490622, AlphaMissense 0.09, MetaLR 0.86, Uncertain significance, not provided
- A68V (p.Ala68Val), gnomAD rs1555897027, REVEL 0.35, MetaLR 0.82
- A70E (p.Ala70Glu), ExAC rs781793264, gnomAD rs781793264, REVEL 0.44, MetaLR 0.91
- A70T (p.Ala70Thr), rs2516447202, ClinGen CA409557435, ClinVar RCV004395124, REVEL 0.17, MetaLR 0.82, Uncertain significance, not specified
- D71H (p.Asp71His), TOPMed rs967186417, gnomAD rs967186417, Uncertain significance, not provided
- D71N (p.Asp71Asn), TOPMed rs967186417, gnomAD rs967186417, REVEL 0.50, MetaLR 0.93
- D71Y (p.Asp71Tyr), TOPMed rs967186417, gnomAD rs967186417, REVEL 0.49, MetaLR 0.95
- S72* (p.Ser72Ter), Ensembl rs1989829039, CADD 36.00
- S72L (p.Ser72Leu), rs1989829039, ClinGen CA409557399, ClinVar RCV002806736, REVEL 0.41, MetaLR 0.88, Uncertain significance, not provided
- A74S (p.Ala74Ser), Ensembl rs1601520660, REVEL 0.16, MetaLR 0.76
- A74V (p.Ala74Val), gnomAD rs1555897025, REVEL 0.46, MetaLR 0.89, Uncertain significance, not provided
- G76C (p.Gly76Cys), rs868924022, ClinGen CA409557335, ClinVar RCV003142552, Ensembl rs868924022, REVEL 0.45, MetaLR 0.92, Uncertain significance, Congenital heart defects, multiple types, 5
- G76R (p.Gly76Arg), Ensembl rs868924022, Uncertain significance
- P77R (p.Pro77Arg), Ensembl rs1989828672, REVEL 0.41, MetaLR 0.94
- G78S (p.Gly78Ser), rs572247741, ClinGen CA9946326, ClinVar RCV001567440, ClinVar RCV003130538, REVEL 0.29, MetaLR 0.81, Conflicting interpretations, not specified; not provided; Congenital heart defects, multiple types, 5
- G78V (p.Gly78Val), gnomAD rs1555897023, REVEL 0.50, MetaLR 0.95
- P80L (p.Pro80Leu), rs1163716969, ClinGen CA409557252, ClinVar RCV004395125, TOPMed rs1163716969, REVEL 0.65, MetaLR 0.94, Uncertain significance, not specified
- H81P (p.His81Pro), rs1459727785, ClinGen CA409557236, ClinVar RCV001984909, ClinVar RCV005834125, REVEL 0.46, AlphaMissense 0.12, Uncertain significance, not provided; not specified
- H81Q (p.His81Gln), rs1034727380, TOPMed rs1034727380, ClinGen CA409557228, ClinVar RCV002671840, REVEL 0.46, MetaLR 0.87, Uncertain significance, not provided
- H81R (p.His81Arg), rs1459727785, ClinGen CA409557233, ClinVar RCV001935588, gnomAD rs1459727785, AlphaMissense 0.12, MetaLR 0.88, Uncertain significance, not provided
- P82L (p.Pro82Leu), gnomAD rs1555897020, REVEL 0.41, MetaLR 0.86
- P82S (p.Pro82Ser), rs1396325756, ClinGen CA409557224, ClinVar RCV002995660, ClinVar RCV004065300, REVEL 0.40, MetaLR 0.80, Uncertain significance, not specified; not provided
- P82T (p.Pro82Thr), TOPMed rs1396325756, REVEL 0.38, MetaLR 0.77, Uncertain significance
- P83A (p.Pro83Ala), rs1410534749, ClinGen CA409557205, ClinVar RCV003733778, TOPMed rs1410534749, REVEL 0.40, MetaLR 0.75, Uncertain significance, not provided
- P83L (p.Pro83Leu), rs994848200, ClinGen CA317288601, ClinVar RCV001897373, ClinVar RCV005330972, REVEL 0.37, MetaLR 0.88, Uncertain significance, not provided; not specified
- P83Q (p.Pro83Gln), TOPMed rs994848200, gnomAD rs994848200, REVEL 0.35, MetaLR 0.88, Uncertain significance, not provided
- P83R (p.Pro83Arg), TOPMed rs994848200, gnomAD rs994848200, REVEL 0.36, MetaLR 0.88, Uncertain significance, not provided
- P83S (p.Pro83Ser), rs1410534749, ClinGen CA409557202, ClinVar RCV002715643, TOPMed rs1410534749, REVEL 0.34, MetaLR 0.70, Uncertain significance, not provided
- P83T (p.Pro83Thr), TOPMed rs1410534749, gnomAD rs1410534749, REVEL 0.38, MetaLR 0.81, Uncertain significance
- A84S (p.Ala84Ser), NCI-TCGA TCGA novel, REVEL 0.22, MetaLR 0.67, Variant assessed as somatic; high impact.
- A85T (p.Ala85Thr), NCI-TCGA TCGA novel, REVEL 0.12, MetaLR 0.78, Variant assessed as somatic; moderate impact.
- A85V (p.Ala85Val), NCI-TCGA TCGA novel, REVEL 0.21, MetaLR 0.79, Variant assessed as somatic; moderate impact.
- H86Y (p.His86Tyr), TOPMed rs1989827082, REVEL 0.27, MetaLR 0.78
- P87S (p.Pro87Ser), Ensembl rs1989827010, REVEL 0.35, MetaLR 0.81, Uncertain significance, not provided
- P88S (p.Pro88Ser), rs2146490508, ClinGen CA409557114, ClinVar RCV001998027, Ensembl rs2146490508, REVEL 0.28, MetaLR 0.83, Uncertain significance, not provided
- G89E (p.Gly89Glu), TOPMed rs1313680998, gnomAD rs1313680998, REVEL 0.33, MetaLR 0.77
- G89R (p.Gly89Arg), gnomAD rs1989826774, REVEL 0.23, MetaLR 0.75
- A90V (p.Ala90Val), TOPMed rs1989826527, REVEL 0.27, MetaLR 0.79
- A92S (p.Ala92Ser), rs1555897013, ClinGen CA409557038, ClinVar RCV003064615, gnomAD rs1555897013, REVEL 0.22, MetaLR 0.82, Uncertain significance, not provided
- F93L (p.Phe93Leu), TOPMed rs1246629140, gnomAD rs1246629140, REVEL 0.43, MetaLR 0.94
- P94S (p.Pro94Ser), TOPMed rs1989825939, REVEL 0.23, MetaLR 0.69
- F95L (p.Phe95Leu), rs1036595030, ClinGen CA317288593, ClinVar RCV002033693, TOPMed rs1036595030, REVEL 0.39, MetaLR 0.87, Uncertain significance, not provided
- A96G (p.Ala96Gly), rs113823160, ClinGen CA317288591, ClinVar RCV001567285, ClinVar RCV003394146, REVEL 0.32, MetaLR 0.86, Conflicting interpretations, not specified; not provided; GATA5-related disorder
- A96V (p.Ala96Val), rs113823160, ClinGen CA409556953, ClinVar RCV003043090, REVEL 0.36, MetaLR 0.84, Uncertain significance, not provided
- H97Q (p.His97Gln), rs890593605, ClinGen CA409556930, ClinVar RCV003700442, Uncertain significance, not provided
- H97Y (p.His97Tyr), TOPMed rs1989825529, REVEL 0.37, MetaLR 0.94
- S98R (p.Ser98Arg), 1000Genomes rs1276202653, TOPMed rs1276202653, gnomAD rs1276202653, REVEL 0.47, MetaLR 0.92, Likely benign
- P99A (p.Pro99Ala), gnomAD rs1989825258, REVEL 0.37, MetaLR 0.87, Uncertain significance
- P99S (p.Pro99Ser), gnomAD rs1989825258, REVEL 0.34, MetaLR 0.87, Uncertain significance, not provided
- S100W (p.Ser100Trp), TOPMed rs1989825177, REVEL 0.40, MetaLR 0.91
- G101E (p.Gly101Glu), Ensembl rs2146490434, REVEL 0.26, MetaLR 0.93
- G101R (p.Gly101Arg), Ensembl rs1989825119, REVEL 0.26, MetaLR 0.93, Uncertain significance, not provided
- G103D (p.Gly103Asp), rs781841004, ClinGen CA9946324, ClinVar RCV001988626, ExAC rs781841004, REVEL 0.32, MetaLR 0.79, Uncertain significance, not provided
- G103S (p.Gly103Ser), TOPMed rs1256378681, REVEL 0.19, MetaLR 0.65, Uncertain significance, not provided
- S104G (p.Ser104Gly), Ensembl rs933702892, REVEL 0.32, MetaLR 0.79
- S104R (p.Ser104Arg), Ensembl rs933702892, REVEL 0.35, MetaLR 0.86
- G105V (p.Gly105Val), TOPMed rs1989824600, REVEL 0.33, MetaLR 0.91
- G106S (p.Gly106Ser), TOPMed rs921019435, gnomAD rs921019435, REVEL 0.23, MetaLR 0.74, Uncertain significance, not provided
- A108E (p.Ala108Glu), TOPMed rs1372855914, gnomAD rs1372855914, REVEL 0.26, MetaLR 0.82
- A108G (p.Ala108Gly), TOPMed rs1372855914, gnomAD rs1372855914
- A108V (p.Ala108Val), TOPMed rs1372855914, gnomAD rs1372855914, REVEL 0.19, MetaLR 0.82
- G109A (p.Gly109Ala), TOPMed rs1170998497, REVEL 0.30, MetaLR 0.80, Uncertain significance, not provided
- G109R (p.Gly109Arg), rs1555897007, ClinGen CA409556720, ClinVar RCV003008486, TOPMed rs1555897007, REVEL 0.31, MetaLR 0.86, Uncertain significance, not provided
- G109V (p.Gly109Val), rs1170998497, ClinGen CA409556712, ClinVar RCV003815097, TOPMed rs1170998497, REVEL 0.30, MetaLR 0.88, Uncertain significance, not provided
- G110A (p.Gly110Ala), rs1434141622, NCI-TCGA Cosmic COSV5334, Variant assessed as somatic; high impact.
- G110C (p.Gly110Cys), rs1373761742, ClinGen CA409556706, ClinVar RCV001200156, TOPMed rs1373761742, REVEL 0.41, MetaLR 0.89, Uncertain significance, not provided
- G110D (p.Gly110Asp), TOPMed rs1989823586, REVEL 0.34, MetaLR 0.83
- G110R (p.Gly110Arg), TOPMed rs1373761742, REVEL 0.37, MetaLR 0.84, Uncertain significance
- G110S (p.Gly110Ser), rs1373761742, ClinGen CA409556710, ClinVar RCV003698013, ClinVar RCV004765950, REVEL 0.21, MetaLR 0.74, Uncertain significance, not provided; not specified
- R111* (p.Arg111Ter), TOPMed rs1989823484, gnomAD rs1989823484, CADD 35.00
- R111G (p.Arg111Gly), TOPMed rs1989823484, gnomAD rs1989823484, REVEL 0.51, MetaLR 0.96, Uncertain significance, not provided
- D112V (p.Asp112Val), gnomAD rs1989823406, REVEL 0.73, MetaLR 0.95
- G113R (p.Gly113Arg), TOPMed rs1303649231, gnomAD rs1303649231, REVEL 0.43, MetaLR 0.85
Public GATA5 analysis runs
- GATA5 analysis run — GATA5 (795 variants) — completed 2026-08-22