FLT3 (P36888) variants and mutations
FLT3 (also known as P36888) is a human protein-coding gene encoding a receptor-type tyrosine-protein kinase protein. Its signaling supports survival and expansion of early hematopoietic progenitors. Internal tandem duplications and kinase-domain mutations produce constitutive activity in acute myeloid leukemia and are important prognostic markers and therapeutic targets. This analysis covers 2,018 FLT3 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes acute myeloid leukemia, hepatocellular carcinoma, and gastrointestinal stromal tumor. Example FLT3 variants include P2L, P2Q, and P2R.
Variant analysis overview
- Gene: FLT3
- Protein: P36888
- UniProt accession: P36888
- Organism: Homo sapiens
- Variants analyzed: 2018
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,857 unspecified-consequence records; 57 synonymous variants; 79 missense variants; 12 frameshift variants; 3 splice-region variants; 7 stop-gained variants; 1 in-frame deletions; 2 substitution
- Prediction scores: 1,477 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: acute myeloid leukemia, hepatocellular carcinoma, gastrointestinal stromal tumor, neoplasm, renal cell carcinoma, cancer, myelofibrosis, acute lymphoblastic leukemia, primary myelofibrosis, hypothyroidism, acquired polycythemia vera, Abnormality of the skeletal system.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 domains; 2 binding sites; 23 post-translational modification sites.
- Structural context: 990 variants have structural context.
- PTM context: 59 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable FLT3 variants
Examples include P2L, P2Q, P2R, P2S, A3V, L4*, L4S, L4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2L (p.Pro2Leu), TOPMed rs1879764124, gnomAD rs1879764124, REVEL 0.12, MetaLR 0.18
- P2Q (p.Pro2Gln), TOPMed rs1879764124, gnomAD rs1879764124, REVEL 0.11, MetaLR 0.19
- P2R (p.Pro2Arg), TOPMed rs1879764124, gnomAD rs1879764124, REVEL 0.12, MetaLR 0.13
- P2S (p.Pro2Ser), Ensembl rs2137844628, REVEL 0.10, MetaLR 0.22
- A3V (p.Ala3Val), TOPMed rs1879763860, REVEL 0.16, MetaLR 0.21
- L4* (p.Leu4Ter), Ensembl rs2137844575
- L4S (p.Leu4Ser), Ensembl rs2137844575
- L4V (p.Leu4Val), Ensembl rs2137844588
- L4W (p.Leu4Trp), Ensembl rs2137844575, MetaLR 0.27, MetaSVM -0.82
- A5G (p.Ala5Gly), TOPMed rs1428286474, gnomAD rs1428286474, MetaLR 0.24, MetaSVM -0.86
- A5V (p.Ala5Val), TOPMed rs1428286474, gnomAD rs1428286474, REVEL 0.21, MetaLR 0.23
- R6C (p.Arg6Cys), NCI-TCGA TCGA novel, REVEL 0.32, MetaLR 0.28, Variant assessed as somatic; moderate impact.
- D7A (p.Asp7Ala), 1000Genomes rs12872889, ExAC rs12872889, TOPMed rs12872889, gnomAD rs12872889, MetaLR 0.18, MetaSVM -0.96, Benign
- D7G (p.Asp7Gly), rs12872889, ClinGen CA6929070, ClinVar RCV001657534, UniProt VAR 034677, REVEL 0.15, MetaLR 0.00, Benign, not provided
- D7V (p.Asp7Val), 1000Genomes rs12872889, ExAC rs12872889, TOPMed rs12872889, gnomAD rs12872889, REVEL 0.15, MetaLR 0.20, Benign
- G9R (p.Gly9Arg), Ensembl rs2137844505, REVEL 0.17, MetaLR 0.18
- Q10* (p.Gln10Ter), Ensembl rs1879761590
- Q10E (p.Gln10Glu), Ensembl rs1879761590
- Q10H (p.Gln10His), gnomAD rs1164677891, REVEL 0.20, MetaLR 0.23
- Q10P (p.Gln10Pro), TOPMed rs1258567135, REVEL 0.14, MetaLR 0.21
- Q10R (p.Gln10Arg), TOPMed rs1258567135
- L11P (p.Leu11Pro), Ensembl rs1011781461, REVEL 0.54, MetaLR 0.35
- P12L (p.Pro12Leu), TOPMed rs1472287571, gnomAD rs1472287571, REVEL 0.12, MetaLR 0.16
- P12S (p.Pro12Ser), TOPMed rs1879760287, REVEL 0.15, MetaLR 0.20
- L13P (p.Leu13Pro), Ensembl rs2137844416
- L13R (p.Leu13Arg), Ensembl rs2137844416
- V15A (p.Val15Ala), ESP rs376016497, ExAC rs376016497, TOPMed rs376016497, gnomAD rs376016497, REVEL 0.17, MetaLR 0.27
- V15F (p.Val15Phe), gnomAD rs1184783541, REVEL 0.30, MetaLR 0.27
- V15L (p.Val15Leu), gnomAD rs1184783541, REVEL 0.11, MetaLR 0.23
- V16A (p.Val16Ala), TOPMed rs1877421197, REVEL 0.33, MetaLR 0.52
- V16I (p.Val16Ile), 1000Genomes rs62636526, ESP rs62636526, ExAC rs62636526, TOPMed rs62636526, Likely benign
- V16L (p.Val16Leu), rs62636526, ClinGen CA159813, ClinVar RCV000121118, ClinVar RCV000898151, REVEL 0.28, MetaLR 0.37, Likely benign, not provided
- F17V (p.Phe17Val), NCI-TCGA Cosmic COSV9960, MetaLR 0.13, MetaSVM -0.99, Variant assessed as somatic; moderate impact.
- S18F (p.Ser18Phe), NCI-TCGA TCGA novel, REVEL 0.35, MetaLR 0.47, Variant assessed as somatic; high impact.
- A19G (p.Ala19Gly), ExAC rs752754459, TOPMed rs752754459, gnomAD rs752754459, MetaLR 0.28, MetaSVM -0.72
- A19V (p.Ala19Val), ExAC rs752754459, TOPMed rs752754459, gnomAD rs752754459, REVEL 0.13, MetaLR 0.21
- M20I (p.Met20Ile), ESP rs373941964, ExAC rs373941964, TOPMed rs373941964, gnomAD rs373941964, REVEL 0.14, MetaLR 0.27, Variant assessed as somatic; moderate impact.
- M20V (p.Met20Val), ExAC rs765418650, TOPMed rs765418650, gnomAD rs765418650, REVEL 0.09, MetaLR 0.20
- I21T (p.Ile21Thr), gnomAD rs1360829467, REVEL 0.10, MetaLR 0.18
- F22C (p.Phe22Cys), TOPMed rs1334799394, gnomAD rs1334799394, REVEL 0.12, MetaLR 0.25
- F22S (p.Phe22Ser), TOPMed rs1334799394, gnomAD rs1334799394, REVEL 0.44, MetaLR 0.26
- G23A (p.Gly23Ala), TOPMed rs1441692439, gnomAD rs1441692439, REVEL 0.05, MetaLR 0.22
- G23V (p.Gly23Val), TOPMed rs1441692439, gnomAD rs1441692439, MetaLR 0.22, MetaSVM -0.80
- T24A (p.Thr24Ala), Ensembl rs1877419954, REVEL 0.06, MetaLR 0.20
- T24S (p.Thr24Ser), Ensembl rs2137788216, MetaLR 0.20, MetaSVM -0.95
- I25V (p.Ile25Val), Ensembl rs1017573758, REVEL 0.12, MetaLR 0.17
- T26I (p.Thr26Ile), ExAC rs754142696, gnomAD rs754142696, REVEL 0.34, MetaLR 0.27
- D29V (p.Asp29Val), ExAC rs766620089, gnomAD rs766620089, REVEL 0.56, MetaLR 0.36
- P31L (p.Pro31Leu), NCI-TCGA Cosmic COSV5405, Variant assessed as somatic; moderate impact.
- P31S (p.Pro31Ser), Ensembl rs2137788145, MetaLR 0.39, MetaSVM -0.43
- V32L (p.Val32Leu), TOPMed rs1877417496, REVEL 0.07, MetaLR 0.20
- V32M (p.Val32Met), TOPMed rs1877417496
- I33F (p.Ile33Phe), ESP rs370661880, ExAC rs370661880, gnomAD rs370661880, REVEL 0.55, MetaLR 0.52
- I33M (p.Ile33Met), ExAC rs768002750, gnomAD rs768002750, REVEL 0.44, MetaLR 0.45
- C35F (p.Cys35Phe), Ensembl rs2137788092
- C35G (p.Cys35Gly), Ensembl rs1593286945, MetaLR 0.54, MetaSVM -0.01
- L37S (p.Leu37Ser), rs1238533990, NCI-TCGA Cosmic COSV5405, gnomAD rs1238533990, REVEL 0.53, MetaLR 0.55, Variant assessed as somatic; moderate impact.
- I38M (p.Ile38Met), 1000Genomes rs553146018, ExAC rs553146018, gnomAD rs553146018, REVEL 0.35, MetaLR 0.43
- I38N (p.Ile38Asn), rs773802462, ClinGen CA6929021, ClinVar RCV004109984, ExAC rs773802462, REVEL 0.54, MetaLR 0.50, Uncertain significance, not specified
- I38V (p.Ile38Val), ExAC rs762242697, TOPMed rs762242697, gnomAD rs762242697, REVEL 0.24, MetaLR 0.28
- N39H (p.Asn39His), ExAC rs748910439, gnomAD rs748910439
- N39S (p.Asn39Ser), ESP rs376280703, TOPMed rs376280703, gnomAD rs376280703, REVEL 0.13, MetaLR 0.17
- N39Y (p.Asn39Tyr), ExAC rs748910439, gnomAD rs748910439, REVEL 0.16, MetaLR 0.24
- H40R (p.His40Arg), ExAC rs775176653, gnomAD rs775176653, REVEL 0.31, MetaLR 0.24
- K41E (p.Lys41Glu), rs139579569, NCI-TCGA Cosmic COSV5407, ESP rs139579569, ExAC rs139579569, REVEL 0.13, MetaLR 0.20, Variant assessed as somatic; moderate impact.
- K41M (p.Lys41Met), TOPMed rs1877412920, MetaLR 0.39, MetaSVM -0.60
- N42K (p.Asn42Lys), ExAC rs745739442, TOPMed rs745739442, gnomAD rs745739442, REVEL 0.15, MetaLR 0.29
- N43K (p.Asn43Lys), TOPMed rs1481362608, gnomAD rs1481362608, REVEL 0.18, MetaLR 0.22
- N43S (p.Asn43Ser), TOPMed rs979689401, gnomAD rs979689401, REVEL 0.14, MetaLR 0.22
- V47M (p.Val47Met), Ensembl rs2137787957
- G48E (p.Gly48Glu), TOPMed rs1394449672, REVEL 0.09, MetaLR 0.23
- G48R (p.Gly48Arg), ExAC rs780849820, TOPMed rs780849820, gnomAD rs780849820, REVEL 0.07, MetaLR 0.19
- G48W (p.Gly48Trp), ExAC rs780849820, TOPMed rs780849820, gnomAD rs780849820
- S50* (p.Ser50Ter), ExAC rs757157975, TOPMed rs757157975, gnomAD rs757157975, CADD 41.00
- S50L (p.Ser50Leu), rs757157975, NCI-TCGA Cosmic COSV5404, ExAC rs757157975, TOPMed rs757157975, REVEL 0.20, MetaLR 0.29, Variant assessed as somatic; moderate impact.
- S51* (p.Ser51Ter), Ensembl rs2137787910, CADD 42.00
- S51P (p.Ser51Pro), TOPMed rs1305926265
- P54L (p.Pro54Leu), gnomAD rs1357370556, REVEL 0.05, MetaLR 0.23
- P54S (p.Pro54Ser), TOPMed rs914265393, REVEL 0.06, MetaLR 0.16
- P54T (p.Pro54Thr), NCI-TCGA Cosmic COSV9961, REVEL 0.05, MetaLR 0.21, Variant assessed as somatic; moderate impact.
- M55I (p.Met55Ile), Ensembl rs1453470522
- M55K (p.Met55Lys), Ensembl rs1294949454, MetaLR 0.15, MetaSVM -1.04
- V56A (p.Val56Ala), NCI-TCGA TCGA novel, MetaLR 0.19, MetaSVM -0.99, Variant assessed as somatic; moderate impact.
- V56I (p.Val56Ile), NCI-TCGA Cosmic COSV5404, REVEL 0.10, MetaLR 0.23, Variant assessed as somatic; moderate impact.
- V56L (p.Val56Leu), gnomAD rs1193293388, REVEL 0.08, MetaLR 0.27
- S57L (p.Ser57Leu), Ensembl rs2137768395, MetaLR 0.21, MetaSVM -0.96
- E58Q (p.Glu58Gln), ExAC rs746910296, gnomAD rs746910296, REVEL 0.07, MetaLR 0.22
- P60L (p.Pro60Leu), ExAC rs777905087, TOPMed rs777905087, gnomAD rs777905087, REVEL 0.09, MetaLR 0.15
- P60R (p.Pro60Arg), ExAC rs777905087, TOPMed rs777905087, gnomAD rs777905087, MetaLR 0.23, MetaSVM -0.92
- E61Q (p.Glu61Gln), Ensembl rs2137768356
- E61V (p.Glu61Val), Ensembl rs2137768343, MetaLR 0.41, MetaSVM -0.35
- D62E (p.Asp62Glu), 1000Genomes rs147453280, ExAC rs147453280, gnomAD rs147453280, REVEL 0.40, MetaLR 0.52
- D62G (p.Asp62Gly), rs1029573584, ClinGen CA247277728, ClinVar RCV004389530, TOPMed rs1029573584, REVEL 0.56, MetaLR 0.59, Uncertain significance, not specified
- L63F (p.Leu63Phe), TOPMed rs1876617733, REVEL 0.36, MetaLR 0.61
- L63I (p.Leu63Ile), NCI-TCGA Cosmic COSV9960, Variant assessed as somatic; moderate impact.
- L63V (p.Leu63Val), TOPMed rs1876617733
- G64R (p.Gly64Arg), rs376895552, ClinGen CA159834, ClinVar RCV000121125, ESP rs376895552, REVEL 0.12, MetaLR 0.27, not provided, not specified
- G64V (p.Gly64Val), NCI-TCGA Cosmic COSV9961, MetaLR 0.26, MetaSVM -0.84, Variant assessed as somatic; moderate impact.
- G64W (p.Gly64Trp), rs376895552, NCI-TCGA Cosmic COSV5405, ESP rs376895552, ExAC rs376895552, REVEL 0.31, MetaLR 0.44, Variant assessed as somatic; moderate impact.
- C65Y (p.Cys65Tyr), Ensembl rs2137768270, REVEL 0.54, MetaLR 0.61
- A66E (p.Ala66Glu), NCI-TCGA Cosmic COSV5404, NCI-TCGA Cosmic COSV5407, Variant assessed as somatic; moderate impact.
- A66T (p.Ala66Thr), rs572460566, NCI-TCGA Cosmic COSV5406, ExAC rs572460566, TOPMed rs572460566, REVEL 0.05, MetaLR 0.20, Variant assessed as somatic; moderate impact.
- A66V (p.Ala66Val), ExAC rs764656426, TOPMed rs764656426, gnomAD rs764656426, REVEL 0.06, MetaLR 0.23, Uncertain significance, not specified
- R68G (p.Arg68Gly), ESP rs201649330, ExAC rs201649330, TOPMed rs201649330, gnomAD rs201649330, REVEL 0.29, MetaLR 0.25, Uncertain significance, not specified
- R68K (p.Arg68Lys), Ensembl rs1593276761
- R68S (p.Arg68Ser), Ensembl rs1593276756
- P69H (p.Pro69His), ExAC rs752457971, gnomAD rs752457971, REVEL 0.05, MetaLR 0.21
- P69R (p.Pro69Arg), ExAC rs752457971, gnomAD rs752457971, REVEL 0.08, MetaLR 0.19
- Q70* (p.Gln70Ter), TOPMed rs1876614044, gnomAD rs1876614044, CADD 26.80
- Q70H (p.Gln70His), NCI-TCGA Cosmic COSV9960, Variant assessed as somatic; moderate impact.
- Q70R (p.Gln70Arg), 1000Genomes rs2137768174, REVEL 0.12, MetaLR 0.23
- S71I (p.Ser71Ile), NCI-TCGA Cosmic COSV5405, Variant assessed as somatic; moderate impact.
- S71R (p.Ser71Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S72L (p.Ser72Leu), Ensembl rs2137768163, MetaLR 0.14, MetaSVM -1.00
- G73W (p.Gly73Trp), Ensembl rs2137768144
- T74A (p.Thr74Ala), TOPMed rs1876613074
- T74R (p.Thr74Arg), NCI-TCGA TCGA novel, TOPMed rs1876612828, MetaLR 0.24, MetaSVM -0.89, Variant assessed as somatic; moderate impact.
- V75M (p.Val75Met), ExAC rs773277609, gnomAD rs773277609, REVEL 0.23, MetaLR 0.33
- E77K (p.Glu77Lys), rs371663652, 1000Genomes rs371663652, ESP rs371663652, ExAC rs371663652, REVEL 0.12, MetaLR 0.24, Variant assessed as somatic; moderate impact.
- A78D (p.Ala78Asp), gnomAD rs1249272183, REVEL 0.38, MetaLR 0.38
- A78P (p.Ala78Pro), ExAC rs769807030, TOPMed rs769807030, gnomAD rs769807030, REVEL 0.39, MetaLR 0.22
- A78S (p.Ala78Ser), ExAC rs769807030, TOPMed rs769807030, gnomAD rs769807030, REVEL 0.13, MetaLR 0.31
- A78T (p.Ala78Thr), ExAC rs769807030, TOPMed rs769807030, gnomAD rs769807030, REVEL 0.14, MetaLR 0.25
- A78V (p.Ala78Val), gnomAD rs1249272183, MetaLR 0.35, MetaSVM -0.70
- A79G (p.Ala79Gly), ExAC rs746082684, TOPMed rs746082684, gnomAD rs746082684, REVEL 0.07, MetaLR 0.23
- A79T (p.Ala79Thr), Ensembl rs2137768042
- A79V (p.Ala79Val), ExAC rs746082684, TOPMed rs746082684, gnomAD rs746082684, MetaLR 0.23, MetaSVM -0.91
- A80S (p.Ala80Ser), ESP rs200841206, ExAC rs200841206, TOPMed rs200841206, gnomAD rs200841206, REVEL 0.03, MetaLR 0.04
- A80T (p.Ala80Thr), rs200841206, NCI-TCGA Cosmic COSV5405, ESP rs200841206, ExAC rs200841206, REVEL 0.01, MetaLR 0.03, Variant assessed as somatic; moderate impact.
- A80V (p.Ala80Val), NCI-TCGA Cosmic COSV5404, MetaLR 0.05, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- E82K (p.Glu82Lys), TOPMed rs1342977721, gnomAD rs1342977721, REVEL 0.18, MetaLR 0.08
- V83A (p.Val83Ala), TOPMed rs1401137061, MetaLR 0.08, MetaSVM -1.02
- D84G (p.Asp84Gly), rs778119340, ClinGen CA6928968, ClinVar RCV004111355, ExAC rs778119340, REVEL 0.08, MetaLR 0.05, Uncertain significance, not specified
- D84N (p.Asp84Asn), rs1235103983, NCI-TCGA Cosmic COSV9960, TOPMed rs1235103983, gnomAD rs1235103983, REVEL 0.04, MetaLR 0.05, Variant assessed as somatic; moderate impact.
- D84V (p.Asp84Val), ExAC rs778119340, TOPMed rs778119340, gnomAD rs778119340, REVEL 0.15, MetaLR 0.05, Uncertain significance
- V85I (p.Val85Ile), TOPMed rs1876608151, gnomAD rs1876608151, REVEL 0.02, MetaLR 0.05
- S86F (p.Ser86Phe), gnomAD rs1232322315, REVEL 0.07, MetaLR 0.05
- S86P (p.Ser86Pro), ExAC rs758850662, TOPMed rs758850662, gnomAD rs758850662, REVEL 0.09, MetaLR 0.05
- A87T (p.Ala87Thr), rs753172215, NCI-TCGA Cosmic COSV9905, ExAC rs753172215, TOPMed rs753172215, REVEL 0.07, MetaLR 0.07, Variant assessed as somatic; moderate impact.
- S88F (p.Ser88Phe), Ensembl rs2137767924, MetaLR 0.11, MetaSVM -0.94
- I89L (p.Ile89Leu), TOPMed rs1383394847, gnomAD rs1383394847, REVEL 0.03, MetaLR 0.05
- I89S (p.Ile89Ser), NCI-TCGA Cosmic COSV9960, MetaLR 0.06, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- T90A (p.Thr90Ala), rs927437720, ClinGen CA247277585, ClinVar RCV004389533, TOPMed rs927437720, REVEL 0.10, MetaLR 0.07, Uncertain significance, not specified
- T90I (p.Thr90Ile), ExAC rs760407576, gnomAD rs760407576, REVEL 0.17, MetaLR 0.08
- Q92* (p.Gln92Ter), Ensembl rs2137767864, CADD 38.00
- V93L (p.Val93Leu), Ensembl rs906476205
- V93M (p.Val93Met), Ensembl rs906476205
- L94P (p.Leu94Pro), TOPMed rs1452119678, gnomAD rs1452119678
- V95D (p.Val95Asp), Ensembl rs2137767823, MetaLR 0.10, MetaSVM -0.98
- V95I (p.Val95Ile), TOPMed rs1045429768, gnomAD rs1045429768, REVEL 0.10, MetaLR 0.07
- D96G (p.Asp96Gly), NCI-TCGA Cosmic COSV9961, MetaLR 0.05, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- D96N (p.Asp96Asn), rs1044875315, NCI-TCGA Cosmic COSV5405, NCI-TCGA Cosmic COSV5407, REVEL 0.02, MetaLR 0.04, Variant assessed as somatic; moderate impact.
- A97G (p.Ala97Gly), 1000Genomes rs55784328, ExAC rs55784328, TOPMed rs55784328, gnomAD rs55784328, REVEL 0.14, MetaLR 0.04
- A97T (p.Ala97Thr), Ensembl rs55975001, REVEL 0.04, MetaLR 0.03
- A97V (p.Ala97Val), 1000Genomes rs55784328, ExAC rs55784328, TOPMed rs55784328, gnomAD rs55784328, REVEL 0.15, MetaLR 0.04
- P98A (p.Pro98Ala), gnomAD rs1483557529
- P98T (p.Pro98Thr), gnomAD rs1483557529, REVEL 0.25, MetaLR 0.24
- G99R (p.Gly99Arg), Ensembl rs988701709, REVEL 0.14, MetaLR 0.08
- N100S (p.Asn100Ser), TOPMed rs1255132494, gnomAD rs1255132494, REVEL 0.11, MetaLR 0.06
- S102A (p.Ser102Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S102C (p.Ser102Cys), TOPMed rs774223271, gnomAD rs774223271
- S102F (p.Ser102Phe), TOPMed rs774223271, gnomAD rs774223271, REVEL 0.22, MetaLR 0.10
- L104F (p.Leu104Phe), ExAC rs781258193, gnomAD rs781258193, REVEL 0.14, MetaLR 0.07
- F107L (p.Phe107Leu), Ensembl rs1458357696, MetaLR 0.07, MetaSVM -1.05
- K108N (p.Lys108Asn), gnomAD rs1227729363, REVEL 0.07, MetaLR 0.05
- H109R (p.His109Arg), TOPMed rs1324707983, gnomAD rs1324707983, REVEL 0.09, MetaLR 0.05
- S110N (p.Ser110Asn), Ensembl rs2137767639, MetaLR 0.04, MetaSVM -1.05
- S111A (p.Ser111Ala), NCI-TCGA Cosmic COSV5404, Variant assessed as somatic; moderate impact.
- S111F (p.Ser111Phe), ESP rs144209806, ExAC rs144209806, TOPMed rs144209806, gnomAD rs144209806, REVEL 0.05, MetaLR 0.07
- S111T (p.Ser111Thr), Ensembl rs2137767623
- N113S (p.Asn113Ser), gnomAD rs1402135250, REVEL 0.02, MetaLR 0.05
- C114F (p.Cys114Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C114Y (p.Cys114Tyr), Ensembl rs2137767594, MetaLR 0.07, MetaSVM -1.04
- Q115H (p.Gln115His), ExAC rs778068222, gnomAD rs778068222
- Q115R (p.Gln115Arg), gnomAD rs1311427431, REVEL 0.14, MetaLR 0.05
- P116R (p.Pro116Arg), rs368416225, ClinGen CA6928950, ClinVar RCV000920721, 1000Genomes rs368416225, REVEL 0.19, MetaLR 0.06, Likely benign, not provided
- P116T (p.Pro116Thr), Ensembl rs1876597785
- D119Y (p.Asp119Tyr), TOPMed rs978490775, gnomAD rs978490775, REVEL 0.22, MetaLR 0.10
- Q121* (p.Gln121Ter), TOPMed rs1362523545
- Q121R (p.Gln121Arg), gnomAD rs1370805863, REVEL 0.06, MetaLR 0.06, Uncertain significance, not specified
Public FLT3 analysis runs
- FLT3 analysis run — FLT3 (2,018 variants) — completed 2026-08-18