SLC6A4 (P31645) variants and mutations
SLC6A4 (also known as P31645) is a human protein-coding gene encoding a sodium-dependent serotonin transporter protein. The sodium-dependent serotonin transporter that clears serotonin from the extracellular space into cells. By maintaining serotonin levels in the brain, it helps shape neuronal development and communication as well as responses to serotonergic medicines. This analysis covers 854 SLC6A4 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes obsessive-compulsive disorder, major depressive disorder, and depressive disorder. Example SLC6A4 variants include M1?, E2D, and E2Q.
Variant analysis overview
- Gene: SLC6A4
- Protein: P31645
- UniProt accession: P31645
- Organism: Homo sapiens
- Variants analyzed: 854
- Variant scope: all variants
- Completed: 2026-05-18
Variant and mutation evidence
- Variant composition: 683 unspecified-consequence records; 15 frameshift variants; 1 stop retained variant; 69 synonymous variants; 79 missense variants; 1 stop-gained variants; 4 splice-region variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 830 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: obsessive-compulsive disorder, major depressive disorder, depressive disorder, fibromyalgia, panic disorder, attention deficit hyperactivity disorder, anxiety disorder, obesity, post-traumatic stress disorder, social anxiety disorder, diabetic neuropathy, bipolar disorder.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 16 binding sites; 5 post-translational modification sites.
- Structural context: 346 variants have structural context.
- PTM context: 7 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, ClinGen, PharmGKB, MaveDB, LitVar.
Notable SLC6A4 variants
Examples include M1?, E2D, E2Q, T3M, T3R, T4A, T4M, L6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55567, Variant assessed as somatic; high impact.
- E2D (p.Glu2Asp), ExAC rs75808495, gnomAD rs75808495, ESM-1b 0.00, AlphaMissense 0.09
- E2Q (p.Glu2Gln), cosmic curated COSV55568, REVEL 0.43, ESM-1b 0.00
- T3M (p.Thr3Met), rs1338210090, NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, TOPMed rs1338210090, REVEL 0.39, ESM-1b 0.00, Uncertain significance, not specified
- T3R (p.Thr3Arg), TOPMed rs1338210090, gnomAD rs1338210090, REVEL 0.38, ESM-1b 0.00
- T4A (p.Thr4Ala), ExAC rs765035150, TOPMed rs765035150, gnomAD rs765035150, REVEL 0.18, ESM-1b 0.00
- T4M (p.Thr4Met), cosmic curated COSV55565, ExAC rs201688297, TOPMed rs201688297, gnomAD rs201688297, REVEL 0.26, ESM-1b 0.00
- L6S (p.Leu6Ser), gnomAD rs1406941594, REVEL 0.43, ESM-1b 0.00
- S8Y (p.Ser8Tyr), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55565, gnomAD rs1906775550, REVEL 0.38, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- Q9E (p.Gln9Glu), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ESM-1b 0.00, AlphaMissense 0.06, Variant assessed as somatic; moderate impact.
- K10R (p.Lys10Arg), ExAC rs762401531, gnomAD rs762401531, REVEL 0.19, ESM-1b 0.00
- Q11K (p.Gln11Lys), TOPMed rs922740757, ESM-1b 0.00, AlphaMissense 0.06
- L12P (p.Leu12Pro), NCI-TCGA Cosmic COSV5556, ESM-1b 0.00, AlphaMissense 0.05, Variant assessed as somatic; moderate impact.
- L12Q (p.Leu12Gln), cosmic curated COSV55569, REVEL 0.11, ESM-1b 0.00
- S13L (p.Ser13Leu), rs774252706, NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ExAC rs774252706, REVEL 0.18, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A14E (p.Ala14Glu), ExAC rs763069645, TOPMed rs763069645, gnomAD rs763069645, REVEL 0.12, ESM-1b 0.00, Uncertain significance
- A14V (p.Ala14Val), rs763069645, ClinGen CA8480516, cosmic curated COSV55570, ClinVar RCV000400361, REVEL 0.09, ESM-1b 0.00, Uncertain significance
- C15S (p.Cys15Ser), cosmic curated COSV55570, REVEL 0.17, ESM-1b 0.00
- D17N (p.Asp17Asn), Ensembl rs1906774585, ESM-1b 0.00, AlphaMissense 0.07
- G18* (p.Gly18Ter), cosmic curated COSV55565
- C21Y (p.Cys21Tyr), cosmic curated COSV55570, gnomAD rs1452608078, REVEL 0.39, ESM-1b 0.00
- Q22H (p.Gln22His), Ensembl rs200670218, ESM-1b 0.00, AlphaMissense 0.12
- Q22P (p.Gln22Pro), TOPMed rs1457763470, ESM-1b 0.00, AlphaMissense 0.08
- E23K (p.Glu23Lys), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- G25* (p.Gly25Ter), cosmic curated COSV55566
- G25R (p.Gly25Arg), rs199727635, ClinGen CA8480510, cosmic curated COSV55565, ClinVar RCV001126932, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Behavior disorder
- G25V (p.Gly25Val), NCI-TCGA TCGA novel, REVEL 0.26, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- V26A (p.Val26Ala), ESP rs375503605, ExAC rs375503605, TOPMed rs375503605, gnomAD rs375503605, REVEL 0.12, ESM-1b 0.00
- Q28P (p.Gln28Pro), NCI-TCGA TCGA novel, REVEL 0.09, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K29M (p.Lys29Met), gnomAD rs1364333745, REVEL 0.26, ESM-1b 0.00
- V30D (p.Val30Asp), cosmic curated COSV10802, REVEL 0.12, ESM-1b 0.00
- V31F (p.Val31Phe), ExAC rs747721432, TOPMed rs747721432, gnomAD rs747721432, REVEL 0.05, ESM-1b 0.00
- P32A (p.Pro32Ala), ExAC rs778707175, TOPMed rs778707175, gnomAD rs778707175, ESM-1b 0.00, AlphaMissense 0.06
- P32S (p.Pro32Ser), ExAC rs778707175, TOPMed rs778707175, gnomAD rs778707175, REVEL 0.21, ESM-1b 0.00
- T33I (p.Thr33Ile), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55566, REVEL 0.08, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P34A (p.Pro34Ala), gnomAD rs1331477421, REVEL 0.13, ESM-1b 0.00
- P34L (p.Pro34Leu), cosmic curated COSV10506, REVEL 0.13, ESM-1b 0.00
- G35E (p.Gly35Glu), ESP rs372056901, ExAC rs372056901, gnomAD rs372056901, REVEL 0.06, ESM-1b 0.00
- G35R (p.Gly35Arg), ExAC rs754684306, gnomAD rs754684306, REVEL 0.18, ESM-1b 0.00
- G35W (p.Gly35Trp), NCI-TCGA TCGA novel, ESM-1b 0.22, AlphaMissense 0.16, Variant assessed as somatic; moderate impact.
- K37I (p.Lys37Ile), gnomAD rs1372689679, REVEL 0.17, ESM-1b 0.00
- V38M (p.Val38Met), gnomAD rs1169264519, REVEL 0.03, ESM-1b 0.00
- E39G (p.Glu39Gly), rs752079357, ExAC rs752079357, gnomAD rs752079357, REVEL 0.09, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E39Q (p.Glu39Gln), ExAC rs757599379, gnomAD rs757599379, REVEL 0.10, ESM-1b 0.00
- S40F (p.Ser40Phe), TOPMed rs1906772093, REVEL 0.09, ESM-1b 0.00
- G41A (p.Gly41Ala), Ensembl rs60067068, REVEL 0.20, ESM-1b 0.00
- G41R (p.Gly41Arg), ESP rs140436169, ExAC rs140436169, TOPMed rs140436169, gnomAD rs140436169, REVEL 0.25, ESM-1b 0.00
- Q42K (p.Gln42Lys), cosmic curated COSV55565, REVEL 0.17, ESM-1b 0.00
- I43L (p.Ile43Leu), TOPMed rs1906771737, ESM-1b 0.00, AlphaMissense 0.09
- S44P (p.Ser44Pro), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55566, REVEL 0.17, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- N45S (p.Asn45Ser), rs200263321, ClinGen CA8480495, ClinVar RCV001126931, 1000Genomes rs200263321, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Behavior disorder
- Y47C (p.Tyr47Cys), cosmic curated COSV55567, REVEL 0.43, ESM-1b 0.00
- S48L (p.Ser48Leu), ExAC rs200339864, gnomAD rs200339864, REVEL 0.05, ESM-1b 0.00
- V50L (p.Val50Leu), TOPMed rs202152288, gnomAD rs202152288, REVEL 0.06, ESM-1b 0.00
- S52R (p.Ser52Arg), cosmic curated COSV55565, ESM-1b 0.00, AlphaMissense 0.20
- G54R (p.Gly54Arg), TOPMed rs1906770923, gnomAD rs1906770923, REVEL 0.14, ESM-1b 0.00
- A55T (p.Ala55Thr), rs770728789, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55567, ExAC rs770728789, REVEL 0.08, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A55V (p.Ala55Val), rs746829911, NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ExAC rs746829911, REVEL 0.05, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G56* (p.Gly56Ter), cosmic curated COSV10506
- G56A (p.Gly56Ala), rs6355, UniProt VAR 014181, 1000Genomes rs6355, ESP rs6355, REVEL 0.10, ESM-1b 0.00, Benign
- G56E (p.Gly56Glu), cosmic curated COSV55566, REVEL 0.12, ESM-1b 0.00
- D57E (p.Asp57Glu), Ensembl rs199821523, ESM-1b 0.00, AlphaMissense 0.07
- D57H (p.Asp57His), ExAC rs747597376, gnomAD rs747597376, REVEL 0.22, ESM-1b 0.00
- D58N (p.Asp58Asn), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ESM-1b 0.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- T59P (p.Thr59Pro), TOPMed rs1906770052, ESM-1b 0.00, AlphaMissense 0.06
- R60Q (p.Arg60Gln), ExAC rs748936504, TOPMed rs748936504, gnomAD rs748936504, REVEL 0.08, ESM-1b 0.00
- R60W (p.Arg60Trp), rs754635080, ClinGen CA8480486, ClinVar RCV001126930, ExAC rs754635080, REVEL 0.11, ESM-1b 0.02, Uncertain significance, Behavior disorder
- S62C (p.Ser62Cys), ExAC rs201041934, TOPMed rs201041934, gnomAD rs201041934, REVEL 0.18, ESM-1b 0.00
- S62F (p.Ser62Phe), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- I63F (p.Ile63Phe), TOPMed rs1362266683, gnomAD rs1362266683, REVEL 0.03, ESM-1b 0.00
- I63V (p.Ile63Val), TOPMed rs1362266683, gnomAD rs1362266683, REVEL 0.01, ESM-1b 0.00
- A65E (p.Ala65Glu), ESP rs140484986, ExAC rs140484986, TOPMed rs140484986, gnomAD rs140484986, REVEL 0.15, ESM-1b 0.00
- A65V (p.Ala65Val), rs140484986, ESP rs140484986, ExAC rs140484986, TOPMed rs140484986, REVEL 0.14, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T66A (p.Thr66Ala), TOPMed rs1171155787, gnomAD rs1171155787, REVEL 0.10, ESM-1b 0.00
- T66P (p.Thr66Pro), TOPMed rs1171155787, gnomAD rs1171155787, REVEL 0.11, ESM-1b 0.00
- T66S (p.Thr66Ser), TOPMed rs1171155787, gnomAD rs1171155787, REVEL 0.06, ESM-1b 0.00
- T67A (p.Thr67Ala), cosmic curated COSV55566, ESM-1b 0.00, AlphaMissense 0.06
- T67I (p.Thr67Ile), ExAC rs758918159, gnomAD rs758918159, REVEL 0.09, ESM-1b 0.00
- T67P (p.Thr67Pro), Ensembl rs2143015509, REVEL 0.08, ESM-1b 0.00
- T69A (p.Thr69Ala), gnomAD rs1230700471, REVEL 0.08, ESM-1b 0.00
- V71L (p.Val71Leu), TOPMed rs1906767449, ESM-1b 0.00, AlphaMissense 0.10
- A72T (p.Ala72Thr), Ensembl rs1597642867, ESM-1b 0.00, AlphaMissense 0.07
- A72V (p.Ala72Val), TOPMed rs200078896, gnomAD rs200078896, REVEL 0.16, ESM-1b 0.00
- L74F (p.Leu74Phe), Ensembl rs2143015505, REVEL 0.11, ESM-1b 0.00
- L74R (p.Leu74Arg), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55567, ESM-1b 0.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- H75R (p.His75Arg), cosmic curated COSV55565, REVEL 0.07, ESM-1b 0.00
- Q76E (p.Gln76Glu), rs1243133079, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55566, TOPMed rs1243133079, REVEL 0.12, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- Q76H (p.Gln76His), cosmic curated COSV10506, gnomAD rs1277908759, REVEL 0.10, ESM-1b 0.00
- Q76R (p.Gln76Arg), Ensembl rs753807011, ESM-1b 0.00, AlphaMissense 0.07
- E78* (p.Glu78Ter), TOPMed rs1906766618
- R79L (p.Arg79Leu), cosmic curated COSV55567, ExAC rs760517433, TOPMed rs760517433, gnomAD rs760517433, REVEL 0.91, ESM-1b 1.00
- R79P (p.Arg79Pro), ExAC rs760517433, TOPMed rs760517433, gnomAD rs760517433, REVEL 0.92, ESM-1b 1.00
- R79Q (p.Arg79Gln), ExAC rs760517433, TOPMed rs760517433, gnomAD rs760517433, REVEL 0.86, ESM-1b 1.00
- R79W (p.Arg79Trp), cosmic curated COSV55565, TOPMed rs1221448303, gnomAD rs1221448303, REVEL 0.89, ESM-1b 1.00
- E80D (p.Glu80Asp), NCI-TCGA TCGA novel, TOPMed rs1906766191, REVEL 0.55, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- T81A (p.Thr81Ala), gnomAD rs1289152192, REVEL 0.23, ESM-1b 1.00
- W82* (p.Trp82Ter), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55567, TOPMed rs1906765811, Variant assessed as somatic; high impact.
- W82C (p.Trp82Cys), TOPMed rs1906765696, gnomAD rs1906765696, REVEL 0.93, ESM-1b 1.00
- W82R (p.Trp82Arg), ExAC rs772080063, gnomAD rs772080063, ESM-1b 1.00, AlphaMissense 1.00
- G83D (p.Gly83Asp), Ensembl rs1906765515, REVEL 0.25, ESM-1b 0.93
- G83S (p.Gly83Ser), gnomAD rs1304639036, REVEL 0.11, ESM-1b 0.00
- K84E (p.Lys84Glu), ExAC rs748124693, TOPMed rs748124693, gnomAD rs748124693, REVEL 0.64, ESM-1b 1.00
- K84R (p.Lys84Arg), rs774467106, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55565, ExAC rs774467106, REVEL 0.46, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K85M (p.Lys85Met), TOPMed rs1332783171, gnomAD rs1332783171, REVEL 0.92, ESM-1b 1.00
- K85N (p.Lys85Asn), TOPMed rs1459089712, gnomAD rs1459089712, REVEL 0.68, ESM-1b 1.00
- D87V (p.Asp87Val), Ensembl rs2143015498, REVEL 0.92, ESM-1b 1.00
- D87Y (p.Asp87Tyr), TOPMed rs1159379145, gnomAD rs1159379145, REVEL 0.92, ESM-1b 1.00
- L90F (p.Leu90Phe), gnomAD rs1183088111, REVEL 0.77, ESM-1b 1.00
- S91* (p.Ser91Ter), NCI-TCGA Cosmic COSV9991, Variant assessed as somatic; high impact.
- S91L (p.Ser91Leu), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ESM-1b 1.00, AlphaMissense 0.79, Variant assessed as somatic; moderate impact.
- I93F (p.Ile93Phe), gnomAD rs1906764352, REVEL 0.86, ESM-1b 1.00
- I93L (p.Ile93Leu), cosmic curated COSV55567, ESM-1b 1.00, AlphaMissense 0.44
- Y95H (p.Tyr95His), gnomAD rs1483323164, REVEL 0.85, ESM-1b 1.00
- G100V (p.Gly100Val), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, REVEL 0.95, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- V102I (p.Val102Ile), ExAC rs769335893, TOPMed rs769335893, gnomAD rs769335893, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not specified
- R104C (p.Arg104Cys), rs200953188, TOPMed rs200953188, REVEL 0.86, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R104H (p.Arg104His), Ensembl rs1906763538, REVEL 0.94, ESM-1b 1.00
- P106L (p.Pro106Leu), cosmic curated COSV10802, gnomAD rs1207932786, REVEL 0.93, ESM-1b 1.00
- I108K (p.Ile108Lys), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ESM-1b 1.00, AlphaMissense 0.86, Variant assessed as somatic; moderate impact.
- I108V (p.Ile108Val), 1000Genomes rs56316081, ExAC rs56316081, TOPMed rs56316081, gnomAD rs56316081, REVEL 0.18, ESM-1b 0.13
- C109W (p.Cys109Trp), TOPMed rs1906762930, gnomAD rs1906762930, REVEL 0.82, ESM-1b 1.00
- Q111H (p.Gln111His), ExAC rs778131401, gnomAD rs778131401, REVEL 0.54, ESM-1b 0.99
- N112S (p.Asn112Ser), ExAC rs758865066, gnomAD rs758865066, REVEL 0.84, ESM-1b 1.00
- G113V (p.Gly113Val), TOPMed rs1906762581, REVEL 0.95, ESM-1b 1.00
- G115V (p.Gly115Val), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.96, Variant assessed as somatic; moderate impact.
- A116H (p.Ala116His), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A116T (p.Ala116Thr), cosmic curated COSV10506, ESM-1b 1.00, AlphaMissense 0.46
- L118F (p.Leu118Phe), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55565, ESM-1b 1.00, AlphaMissense 0.60, Variant assessed as somatic; moderate impact.
- P120L (p.Pro120Leu), cosmic curated COSV55567, REVEL 0.88, ESM-1b 1.00
- Y121C (p.Tyr121Cys), Ensembl rs758510581, REVEL 0.94, ESM-1b 1.00
- T122A (p.Thr122Ala), Ensembl rs2143015196, REVEL 0.22, ESM-1b 0.00
- T122I (p.Thr122Ile), TOPMed rs1199374764, gnomAD rs1199374764, REVEL 0.13, ESM-1b 0.00
- T122N (p.Thr122Asn), cosmic curated COSV55569, REVEL 0.52, ESM-1b 1.00
- I123T (p.Ile123Thr), 1000Genomes rs542708308, ExAC rs542708308, gnomAD rs542708308, REVEL 0.64, ESM-1b 0.00
- I123V (p.Ile123Val), TOPMed rs1906664626, ESM-1b 0.00, AlphaMissense 0.06
- M124T (p.Met124Thr), ExAC rs779391253, gnomAD rs779391253, REVEL 0.77, ESM-1b 0.93
- A125T (p.Ala125Thr), cosmic curated COSV55566, ESM-1b 1.00, AlphaMissense 0.27
- I126S (p.Ile126Ser), TOPMed rs1435297805, gnomAD rs1435297805, REVEL 0.75, ESM-1b 1.00
- I126V (p.Ile126Val), ExAC rs755449138, gnomAD rs755449138, REVEL 0.12, ESM-1b 0.00
- F127C (p.Phe127Cys), ExAC rs780022333, TOPMed rs780022333, gnomAD rs780022333, REVEL 0.71, ESM-1b 1.00
- F127L (p.Phe127Leu), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, REVEL 0.48, ESM-1b 0.07, Variant assessed as somatic; moderate impact.
- F127S (p.Phe127Ser), ExAC rs780022333, TOPMed rs780022333, gnomAD rs780022333, REVEL 0.82, ESM-1b 1.00, Uncertain significance, not specified
- G129E (p.Gly129Glu), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- I130F (p.Ile130Phe), ExAC rs756254987, gnomAD rs756254987, REVEL 0.65, ESM-1b 1.00
- I130S (p.Ile130Ser), NCI-TCGA TCGA novel, REVEL 0.87, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- I130V (p.Ile130Val), ExAC rs756254987, gnomAD rs756254987, REVEL 0.15, ESM-1b 0.00
- P131L (p.Pro131Leu), gnomAD rs201480140, REVEL 0.91, ESM-1b 1.00
- P131S (p.Pro131Ser), cosmic curated COSV55569, REVEL 0.92, ESM-1b 1.00
- Y134F (p.Tyr134Phe), 1000Genomes rs575214286, ExAC rs575214286, gnomAD rs575214286, REVEL 0.64, ESM-1b 1.00
- M135L (p.Met135Leu), gnomAD rs1274463771, REVEL 0.21, ESM-1b 1.00
- M135T (p.Met135Thr), ExAC rs764034794, TOPMed rs764034794, gnomAD rs764034794, REVEL 0.87, ESM-1b 1.00
- M135V (p.Met135Val), gnomAD rs1274463771, REVEL 0.72, ESM-1b 1.00
- E136D (p.Glu136Asp), Ensembl rs2143015189, REVEL 0.92, ESM-1b 1.00
- L137F (p.Leu137Phe), TOPMed rs1906662236, ESM-1b 1.00, AlphaMissense 0.88
- A138T (p.Ala138Thr), ExAC rs201802369, TOPMed rs201802369, gnomAD rs201802369, REVEL 0.80, ESM-1b 1.00
- G140R (p.Gly140Arg), NCI-TCGA Cosmic COSV5557, cosmic curated COSV55570, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- Q141* (p.Gln141Ter), cosmic curated COSV10802
- H143R (p.His143Arg), NCI-TCGA Cosmic COSV9991, cosmic curated COSV99911, REVEL 0.79, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- H143Y (p.His143Tyr), ExAC rs769156350, TOPMed rs769156350, gnomAD rs769156350, REVEL 0.57, ESM-1b 0.00
- R144* (p.Arg144Ter), cosmic curated COSV10437, ExAC rs759098089, TOPMed rs759098089, gnomAD rs759098089, CADD 36.00
- R144Q (p.Arg144Gln), rs147306146, cosmic curated COSV55566, ESP rs147306146, ExAC rs147306146, REVEL 0.66, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- N145S (p.Asn145Ser), ExAC rs770637680, gnomAD rs770637680, REVEL 0.14, ESM-1b 0.00
- G146* (p.Gly146Ter), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55565, Variant assessed as somatic; high impact.
- G146R (p.Gly146Arg), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55568, ESM-1b 1.00, AlphaMissense 0.99, Variant assessed as somatic; moderate impact.
- C147Y (p.Cys147Tyr), TOPMed rs1294341765, REVEL 0.79, ESM-1b 1.00
- I148V (p.Ile148Val), gnomAD rs1167206964, REVEL 0.37, ESM-1b 0.00
- S149L (p.Ser149Leu), cosmic curated COSV10875, ESM-1b 1.00, AlphaMissense 0.41
- W151R (p.Trp151Arg), ExAC rs774597104, gnomAD rs774597104, REVEL 0.90, ESM-1b 1.00
- R152G (p.Arg152Gly), ExAC rs769159876, gnomAD rs769159876, ESM-1b 0.00, AlphaMissense 0.16
- K153* (p.Lys153Ter), TOPMed rs1176511049, gnomAD rs1176511049, CADD 47.00
- K153N (p.Lys153Asn), cosmic curated COSV10955, ESM-1b 0.90, AlphaMissense 0.47
- K153Q (p.Lys153Gln), TOPMed rs1176511049, gnomAD rs1176511049, REVEL 0.52, ESM-1b 0.00
- C155S (p.Cys155Ser), ExAC rs749793113, gnomAD rs749793113, ESM-1b 1.00, AlphaMissense 0.75
- P156L (p.Pro156Leu), TOPMed rs201940331, REVEL 0.86, ESM-1b 1.00
- I157V (p.Ile157Val), rs145643221, ClinGen CA8480422, ClinVar RCV001124258, ESP rs145643221, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Behavior disorder
- K159E (p.Lys159Glu), TOPMed rs1264232560, gnomAD rs1264232560, REVEL 0.76, ESM-1b 1.00
- I161T (p.Ile161Thr), ExAC rs201833332, TOPMed rs201833332, gnomAD rs201833332, REVEL 0.85, ESM-1b 0.81
- I161V (p.Ile161Val), gnomAD rs1906644426, REVEL 0.27, ESM-1b 0.00
- A164G (p.Ala164Gly), ExAC rs757512580, gnomAD rs757512580, REVEL 0.46, ESM-1b 0.00
- A164T (p.Ala164Thr), TOPMed rs1906644128, REVEL 0.39, ESM-1b 0.13
Public SLC6A4 analysis runs
- SLC6A4 analysis run — SLC6A4 (854 variants) — completed 2026-05-18