SLC6A19 (Q695T7) variants and mutations
SLC6A19 (also known as Q695T7) is a human protein-coding gene encoding a sodium-dependent neutral amino acid transporter B(0)AT1 protein. A sodium-dependent transporter that absorbs neutral amino acids across intestinal and kidney epithelial cells. Loss of function causes Hartnup disorder. This analysis covers 972 SLC6A19 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes Hartnup disease, iminoglycinuria, and Hyperglycinuria. Example SLC6A19 variants include V2A, V2L, and V2G.
Variant analysis overview
- Gene: SLC6A19
- Protein: Q695T7
- UniProt accession: Q695T7
- Organism: Homo sapiens
- Variants analyzed: 972
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 826 unspecified-consequence records; 105 missense variants; 89 synonymous variants; 8 frameshift variants; 2 in-frame deletions; 8 stop-gained variants; 4 splice-region variants; 2 substitution
- Prediction scores: 942 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hartnup disease, iminoglycinuria, Hyperglycinuria, clonal hematopoiesis, frozen shoulder, hereditary disease, pathological myopia, myopia, colorectal carcinoma, nonpapillary renal cell carcinoma, renal cell carcinoma, extraoral halitosis due to methanethiol oxidase deficiency.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 7 post-translational modification sites.
- Structural context: 354 variants have structural context.
- PTM context: 10 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.
Diseases linked to SLC6A19
Notable SLC6A19 variants
Examples include V2A, V2L, V2G, V2V, R3S, R3M, R3R, L4F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- V2A (p.Val2Ala), TOPMed rs1745701344, ESM-1b 0.00, AlphaMissense 0.14
- V2L (p.Val2Leu), rs367576369, ClinGen CA3182527, ClinVar RCV002103052, 1000Genomes rs367576369, REVEL 0.06, ESM-1b 0.00, Likely benign, not provided
- V2G (p.Val2Gly), gnomAD 5-1201655-T-G, REVEL 0.36, ESM-1b 0.00
- V2V (p.Val2Val), gnomAD 5-1201656-G-T, CADD 7.57
- R3S (p.Arg3Ser), ExAC rs758143996, gnomAD rs758143996, REVEL 0.20, ESM-1b 0.00
- R3M (p.Arg3Met), gnomAD 5-1201658-G-T, REVEL 0.35, ESM-1b 0.00
- R3R (p.Arg3Arg), gnomAD 5-1201659-G-A, CADD 6.04
- L4F (p.Leu4Phe), NCI-TCGA Cosmic COSV1004, Ensembl rs1745701465, REVEL 0.32, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- L4P (p.Leu4Pro), gnomAD rs1346240173, REVEL 0.56, ESM-1b 0.00
- L4V (p.Leu4Val), gnomAD 5-1201660-C-G, REVEL 0.30, ESM-1b 0.00
- L4L (p.Leu4Leu), gnomAD 5-1201662-C-G, CADD 0.53
- V5E (p.Val5Glu), TOPMed rs1380853135, REVEL 0.21, ESM-1b 0.00
- V5L (p.Val5Leu), rs200608959, ClinGen CA3182530, ClinVar RCV003345870, 1000Genomes rs200608959, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- V5M (p.Val5Met), rs200608959, ClinGen CA3182531, ClinVar RCV002790895, 1000Genomes rs200608959, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- V5G (p.Val5Gly), gnomAD 5-1201664-T-G, REVEL 0.25, ESM-1b 0.00
- V5A (p.Val5Ala), gnomAD 5-1201664-T-C, REVEL 0.07, ESM-1b 0.00
- V5V (p.Val5Val), gnomAD 5-1201665-G-T, CADD 5.59
- L6M (p.Leu6Met), gnomAD 5-1201666-C-A, REVEL 0.25, ESM-1b 0.00
- L6L (p.Leu6Leu), gnomAD 5-1201666-C-T, CADD 6.65
- P7L (p.Pro7Leu), TOPMed rs1357427165, gnomAD rs1357427165, REVEL 0.56, ESM-1b 0.00
- P7S (p.Pro7Ser), TOPMed rs1300763596, gnomAD rs1300763596, REVEL 0.44, ESM-1b 0.00, Uncertain significance, Neutral 1 amino acid transport defect
- P7P (p.Pro7Pro), gnomAD 5-1201671-C-A, CADD 7.83
- N8K (p.Asn8Lys), rs557180261, ClinGen CA3182532, ClinVar RCV002599905, ClinVar RCV005034750, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not provided; Neutral 1 amino acid transport defect
- N8T (p.Asn8Thr), gnomAD 5-1201668-GC-G, CADD 23.90
- N8H (p.Asn8His), gnomAD 5-1201672-A-C, REVEL 0.40, ESM-1b 0.00
- N8N (p.Asn8Asn), rs557180261, gnomAD 5-1201674-C-T, CADD 4.39
- P9L (p.Pro9Leu), rs143171731, ClinGen CA3182533, ClinVar RCV002804878, ESP rs143171731, REVEL 0.53, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P9T (p.Pro9Thr), rs1421994940, ClinGen CA359059744, ClinVar RCV002956892, TOPMed rs1421994940, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P9P (p.Pro9Pro), rs370311234, gnomAD 5-1201677-C-A, CADD 0.12
- G10D (p.Gly10Asp), rs142954960, ClinGen CA3182536, ClinVar RCV002582975, ESP rs142954960, REVEL 0.28, ESM-1b 0.00, Uncertain significance, not provided
- G10S (p.Gly10Ser), rs138944821, ClinGen CA3182535, ClinVar RCV002036859, ClinVar RCV004044897, REVEL 0.36, ESM-1b 0.00, Uncertain significance, not provided; Neutral 1 amino acid transport defect; Inborn genetic diseases
- G10V (p.Gly10Val), ESP rs142954960, ExAC rs142954960, TOPMed rs142954960, gnomAD rs142954960, REVEL 0.48, ESM-1b 0.00, Uncertain significance
- L11P (p.Leu11Pro), gnomAD 5-1201678-GGCCTAG, CADD 25.20
- L11R (p.Leu11Arg), gnomAD 5-1201682-T-G, REVEL 0.55, ESM-1b 0.00
- L11L (p.Leu11Leu), rs1441730652, gnomAD 5-1201683-A-G, CADD 5.13
- D12G (p.Asp12Gly), TOPMed rs924524584, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, Inborn genetic diseases
- D12A (p.Asp12Ala), gnomAD 5-1201685-A-C, REVEL 0.24, ESM-1b 0.00
- D12V (p.Asp12Val), gnomAD 5-1201685-A-T, REVEL 0.38, ESM-1b 0.00
- D12D (p.Asp12Asp), rs377331317, gnomAD 5-1201686-C-T, CADD 1.61
- A13S (p.Ala13Ser), 1000Genomes rs200291939, ExAC rs200291939, TOPMed rs200291939, gnomAD rs200291939, REVEL 0.04, ESM-1b 0.00, Uncertain significance
- A13T (p.Ala13Thr), rs200291939, ClinGen CA3182539, NCI-TCGA Cosmic COSV5867, ClinVar RCV002597569, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided; Neutral 1 amino acid transport defect
- A13V (p.Ala13Val), TOPMed rs1485693997, gnomAD rs1485693997, REVEL 0.14, ESM-1b 0.00
- R14G (p.Arg14Gly), ExAC rs754340294, TOPMed rs754340294, gnomAD rs754340294, REVEL 0.49, ESM-1b 0.00, Uncertain significance
- R14P (p.Arg14Pro), 1000Genomes rs147458082, ESP rs147458082, ExAC rs147458082, TOPMed rs147458082, REVEL 0.48, ESM-1b 0.00, Benign
- R14Q (p.Arg14Gln), rs147458082, ClinGen CA3182542, ClinVar RCV000514646, ClinVar RCV006447283, REVEL 0.36, ESM-1b 0.00, Benign/Likely benign, not specified; not provided
- R14W (p.Arg14Trp), rs754340294, ClinGen CA3182541, ClinVar RCV003072207, ExAC rs754340294, REVEL 0.49, ESM-1b 1.00, Uncertain significance, not provided
- R14R (p.Arg14Arg), gnomAD 5-1201690-C-A, CADD 6.83
- R14L (p.Arg14Leu), gnomAD 5-1201691-G-T, REVEL 0.46, ESM-1b 0.00
- I15M (p.Ile15Met), rs138390777, ClinGen CA3182545, ClinVar RCV000900429, ClinVar RCV002502652, REVEL 0.30, ESM-1b 0.00, Benign/Likely benign, not provided; Neutral 1 amino acid transport defect; Hyperglycinuria
- I15V (p.Ile15Val), ExAC rs750588579, gnomAD rs750588579, REVEL 0.28, ESM-1b 0.00
- P16L (p.Pro16Leu), rs201925289, ClinGen CA3182546, ClinVar RCV002615173, ClinVar RCV005045320, REVEL 0.10, ESM-1b 0.00, Conflicting interpretations, Neutral 1 amino acid transport defect; not provided
- P16Q (p.Pro16Gln), ESP rs201925289, ExAC rs201925289, TOPMed rs201925289, gnomAD rs201925289, REVEL 0.07, ESM-1b 0.00, Likely benign
- P16R (p.Pro16Arg), ESP rs201925289, ExAC rs201925289, TOPMed rs201925289, gnomAD rs201925289, REVEL 0.23, ESM-1b 0.00, Likely benign
- P16P (p.Pro16Pro), rs141911612, gnomAD 5-1201698-G-A, CADD 0.14
- S17C (p.Ser17Cys), ExAC rs754779609, gnomAD rs754779609, REVEL 0.33, ESM-1b 0.80
- S17F (p.Ser17Phe), ExAC rs754779609, gnomAD rs754779609, ESM-1b 0.75, AlphaMissense 0.43
- S17T (p.Ser17Thr), TOPMed rs1377869811, gnomAD rs1377869811, REVEL 0.06, ESM-1b 0.00
- S17P (p.Ser17Pro), gnomAD 5-1201699-T-C, REVEL 0.23, ESM-1b 0.00
- S17S (p.Ser17Ser), gnomAD 5-1201701-C-A, CADD 2.10
- L18V (p.Leu18Val), TOPMed rs1745704314, ESM-1b 0.00, AlphaMissense 0.12
- L18L (p.Leu18Leu), gnomAD 5-1201702-C-T, CADD 5.99
- L18R (p.Leu18Arg), gnomAD 5-1201703-T-G, REVEL 0.24, ESM-1b 0.00
- A19V (p.Ala19Val), rs2477905668, ClinGen CA359060015, ClinVar RCV003457426, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not provided
- A19D (p.Ala19Asp), gnomAD 5-1201706-C-A, REVEL 0.10, ESM-1b 0.00
- E20D (p.Glu20Asp), gnomAD 5-1201710-G-C, REVEL 0.09, ESM-1b 0.00
- E22Q (p.Glu22Gln), gnomAD 5-1201714-G-C, REVEL 0.24, ESM-1b 0.00
- E22G (p.Glu22Gly), gnomAD 5-1201715-A-G, REVEL 0.24, ESM-1b 0.00
- E22A (p.Glu22Ala), gnomAD 5-1201715-A-C, REVEL 0.27, ESM-1b 0.00
- E22E (p.Glu22Glu), gnomAD 5-1201716-G-A, CADD 1.31
- T23A (p.Thr23Ala), rs748068856, ClinGen CA3182550, ClinVar RCV004464293, ExAC rs748068856, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases
- T23N (p.Thr23Asn), gnomAD rs1444672095, REVEL 0.09, ESM-1b 0.00
- T23I (p.Thr23Ile), gnomAD 5-1201718-C-T, REVEL 0.18, ESM-1b 0.00
- T23T (p.Thr23Thr), gnomAD 5-1201719-C-T, CADD 3.46
- I24T (p.Ile24Thr), rs772851309, ClinGen CA3182552, ClinVar RCV002871977, ExAC rs772851309, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- I24V (p.Ile24Val), rs769288666, ClinGen CA3182551, ClinVar RCV002966834, ExAC rs769288666, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- I24F (p.Ile24Phe), gnomAD 5-1201720-A-T, REVEL 0.11, ESM-1b 0.00
- I24M (p.Ile24Met), gnomAD 5-1201722-C-G, REVEL 0.12, ESM-1b 0.00
- I24I (p.Ile24Ile), rs373974416, gnomAD 5-1201722-C-T, CADD 0.10
- E25K (p.Glu25Lys), rs770692493, ClinGen CA3182554, ClinVar RCV002982206, ExAC rs770692493, REVEL 0.45, ESM-1b 0.00, Uncertain significance, not provided
- E25E (p.Glu25Glu), rs1339047233, gnomAD 5-1201725-G-A, CADD 2.16
- Q26R (p.Gln26Arg), gnomAD 5-1201727-A-G, REVEL 0.10, ESM-1b 0.00
- Q26H (p.Gln26His), gnomAD 5-1201728-G-C, REVEL 0.15, ESM-1b 0.00
- E27A (p.Glu27Ala), TOPMed rs1745705144, ESM-1b 1.00, AlphaMissense 0.08
- E27Q (p.Glu27Gln), rs150662417, ClinGen CA112928343, ClinVar RCV002855094, ESP rs150662417, REVEL 0.17, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- E27K (p.Glu27Lys), gnomAD 5-1201729-G-A, REVEL 0.13, ESM-1b 1.00
- E27V (p.Glu27Val), gnomAD 5-1201730-A-T, REVEL 0.16, ESM-1b 1.00
- E27E (p.Glu27Glu), gnomAD 5-1201731-G-A, CADD 1.19
- E28K (p.Glu28Lys), rs774192589, ExAC rs774192589, gnomAD rs774192589, REVEL 0.38, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- E28V (p.Glu28Val), rs202191814, ClinGen CA3182556, ClinVar RCV003740126, ClinVar RCV004374324, REVEL 0.34, ESM-1b 1.00, Conflicting interpretations, not provided; Inborn genetic diseases
- E28del (p.Glu28del), rs928574144, gnomAD 5-1201726-CAGG-C, CADD 3.62
- E28E (p.Glu28Glu), rs768931226, gnomAD 5-1201734-G-A, CADD 2.49
- A29S (p.Ala29Ser), gnomAD 5-1201735-G-T, REVEL 0.16, ESM-1b 0.00
- A29A (p.Ala29Ala), rs374365963, gnomAD 5-1201737-C-A, CADD 5.93
- S30N (p.Ser30Asn), gnomAD rs1182060613, REVEL 0.06, ESM-1b 0.00
- S30G (p.Ser30Gly), gnomAD 5-1201738-A-G, REVEL 0.15, ESM-1b 0.00
- S31A (p.Ser31Ala), ExAC rs777143364, TOPMed rs777143364, gnomAD rs777143364, REVEL 0.06, ESM-1b 0.00
- S31C (p.Ser31Cys), TOPMed rs1477904804, gnomAD rs1477904804, REVEL 0.26, ESM-1b 0.78
- S31Y (p.Ser31Tyr), gnomAD 5-1201742-C-A, REVEL 0.21, ESM-1b 1.00
- S31S (p.Ser31Ser), gnomAD 5-1201743-C-T, CADD 1.81
- R32L (p.Arg32Leu), 1000Genomes rs190631924, ExAC rs190631924, TOPMed rs190631924, gnomAD rs190631924, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- R32Q (p.Arg32Gln), rs190631924, ClinGen CA3182561, ClinVar RCV001933148, ClinVar RCV005002666, REVEL 0.83, ESM-1b 1.00, Uncertain significance, Neutral 1 amino acid transport defect; not provided
- R32W (p.Arg32Trp), rs762242971, ClinGen CA3182559, ClinVar RCV002606695, ExAC rs762242971, REVEL 0.79, ESM-1b 1.00, Uncertain significance, not provided
- R32G (p.Arg32Gly), gnomAD 5-1201744-C-G, REVEL 0.80, ESM-1b 1.00
- P33L (p.Pro33Leu), rs766566496, ClinGen CA3182563, ClinVar RCV002027224, ClinVar RCV002486739, REVEL 0.63, ESM-1b 1.00, Uncertain significance, not provided; Neutral 1 amino acid transport defect; Iminoglycinuria
- P33T (p.Pro33Thr), rs202242697, ClinGen CA3182562, NCI-TCGA Cosmic COSV1004, ClinVar RCV002988725, REVEL 0.70, ESM-1b 1.00, Uncertain significance, not provided; Neutral 1 amino acid transport defect
- P33P (p.Pro33Pro), rs756223121, gnomAD 5-1201749-G-A, CADD 9.31
- K34S (p.Lys34Ser), gnomAD 5-1201749-GA-G, CADD 22.50
- K34T (p.Lys34Thr), gnomAD 5-1201751-A-C, REVEL 0.17, ESM-1b 0.09
- W35R (p.Trp35Arg), gnomAD 5-1201753-T-C, REVEL 0.94, ESM-1b 1.00
- W35C (p.Trp35Cys), gnomAD 5-1201755-G-T, REVEL 0.91, ESM-1b 1.00
- D36N (p.Asp36Asn), TOPMed rs934847303, gnomAD rs934847303, ESM-1b 1.00, AlphaMissense 0.15
- D36Y (p.Asp36Tyr), TOPMed rs934847303, gnomAD rs934847303, REVEL 0.82, ESM-1b 1.00
- D36V (p.Asp36Val), gnomAD 5-1201757-A-T, REVEL 0.68, ESM-1b 1.00
- N37H (p.Asn37His), Ensembl rs2126487914, ESM-1b 1.00, AlphaMissense 0.21
- N37K (p.Asn37Lys), TOPMed rs1745706328, gnomAD rs1745706328, REVEL 0.57, ESM-1b 1.00
- N37del (p.Asn37del), rs769995015, gnomAD 5-1201756-GACA-G, CADD 20.10
- N37D (p.Asn37Asp), gnomAD 5-1201759-A-G, REVEL 0.73, ESM-1b 1.00
- N37N (p.Asn37Asn), gnomAD 5-1201761-C-T, CADD 9.61
- K38* (p.Lys38Ter), gnomAD rs1411775681, CADD 46.00
- K38E (p.Lys38Glu), gnomAD 5-1201762-A-G, REVEL 0.88, ESM-1b 1.00
- K38K (p.Lys38Lys), rs139908611, gnomAD 5-1201764-G-A, CADD 9.02
- K38N (p.Lys38Asn), gnomAD 5-1201764-G-T, REVEL 0.58, ESM-1b 1.00
- A39G (p.Ala39Gly), 1000Genomes rs569360274, ExAC rs569360274, TOPMed rs569360274, gnomAD rs569360274, ESM-1b 1.00, AlphaMissense 0.16, Uncertain significance
- A39T (p.Ala39Thr), ESP rs368400668, ExAC rs368400668, TOPMed rs368400668, gnomAD rs368400668, REVEL 0.31, ESM-1b 0.75
- A39V (p.Ala39Val), 1000Genomes rs569360274, ExAC rs569360274, TOPMed rs569360274, gnomAD rs569360274, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided
- A39S (p.Ala39Ser), gnomAD 5-1201765-G-T, REVEL 0.45, ESM-1b 1.00
- A39E (p.Ala39Glu), gnomAD 5-1201766-C-A, REVEL 0.66, ESM-1b 1.00
- A39A (p.Ala39Ala), rs149830504, gnomAD 5-1201767-G-A, CADD 0.21
- Q40* (p.Gln40Ter), TOPMed rs1294354065, gnomAD rs1294354065, CADD 42.00
- Q40K (p.Gln40Lys), TOPMed rs1294354065, gnomAD rs1294354065, REVEL 0.72, ESM-1b 1.00
- Q40P (p.Gln40Pro), gnomAD rs1369938743, REVEL 0.89, ESM-1b 1.00
- Q40R (p.Gln40Arg), gnomAD rs1369938743, REVEL 0.80, ESM-1b 1.00
- Q40Q (p.Gln40Gln), rs1371591515, gnomAD 5-1201770-G-A, CADD 7.58
- Y41H (p.Tyr41His), gnomAD 5-1201771-T-C, REVEL 0.93, ESM-1b 1.00
- M42T (p.Met42Thr), rs144373119, ClinGen CA3182571, ClinVar RCV001973765, ClinVar RCV002507734, REVEL 0.69, ESM-1b 1.00, Uncertain significance, Neutral 1 amino acid transport defect; Iminoglycinuria; Hyperglycinuria
- M42V (p.Met42Val), ESP rs372127679, TOPMed rs372127679, gnomAD rs372127679, REVEL 0.28, ESM-1b 0.12, Uncertain significance, Neutral 1 amino acid transport defect
- M42L (p.Met42Leu), gnomAD 5-1201774-A-T, REVEL 0.18, ESM-1b 0.00
- M42I (p.Met42Ile), gnomAD 5-1201776-G-A, REVEL 0.08, ESM-1b 0.00
- L43P (p.Leu43Pro), gnomAD 5-1201778-T-C, REVEL 0.98, ESM-1b 1.00
- L43L (p.Leu43Leu), rs748780849, gnomAD 5-1201779-C-A, CADD 6.60
- T44T (p.Thr44Thr), rs770600548, gnomAD 5-1201782-C-T, CADD 6.99
- C45T (p.Cys45Thr), NCI-TCGA Cosmic COSV5867, Variant assessed as somatic; moderate impact.
- C45Y (p.Cys45Tyr), gnomAD 5-1201784-G-A, REVEL 0.81, ESM-1b 1.00
- C45F (p.Cys45Phe), gnomAD 5-1201784-G-T, REVEL 0.76, ESM-1b 1.00
- G47C (p.Gly47Cys), gnomAD rs1745708834, REVEL 0.95, ESM-1b 0.97
- G47D (p.Gly47Asp), TOPMed rs1387797157, ESM-1b 1.00, AlphaMissense 0.95
- G47A (p.Gly47Ala), gnomAD 5-1201790-G-C, REVEL 0.87, ESM-1b 0.00
- F48F (p.Phe48Phe), gnomAD 5-1201794-C-T, CADD 11.40
- C49G (p.Cys49Gly), TOPMed rs1195946651, gnomAD rs1195946651, REVEL 0.71, ESM-1b 1.00
- C49Y (p.Cys49Tyr), rs796064507, ClinGen CA248449, ClinVar RCV000190382, Ensembl rs796064507, REVEL 0.76, ESM-1b 1.00, not provided
- C49C (p.Cys49Cys), rs778666369, gnomAD 5-1201797-C-T, CADD 9.33
- C49* (p.Cys49Ter), gnomAD 5-1201797-C-A, CADD 37.00
- V50L (p.Val50Leu), ExAC rs745526472, TOPMed rs745526472, gnomAD rs745526472, REVEL 0.89, ESM-1b 1.00, Uncertain significance
- V50M (p.Val50Met), rs745526472, ClinGen CA3182575, ClinVar RCV002616512, ExAC rs745526472, REVEL 0.91, ESM-1b 1.00, Uncertain significance, not provided
- V50V (p.Val50Val), rs1192066819, gnomAD 5-1201800-G-A, CADD 9.00
- G51A (p.Gly51Ala), gnomAD rs1255317751, REVEL 0.95, ESM-1b 1.00
- G51D (p.Gly51Asp), gnomAD 5-1201802-G-A, REVEL 0.95, ESM-1b 1.00
- G51G (p.Gly51Gly), rs1455045629, gnomAD 5-1201803-C-T, AlphaMissense 0.09, MetaLR 0.18
- L52P (p.Leu52Pro), gnomAD 5-1201805-T-C, REVEL 0.98, ESM-1b 1.00
- L52L (p.Leu52Leu), gnomAD 5-1201806-C-G, CADD 1.62
- G53C (p.Gly53Cys), ExAC rs762309384, TOPMed rs762309384, gnomAD rs762309384, REVEL 0.93, ESM-1b 1.00
- G53R (p.Gly53Arg), ExAC rs762309384, TOPMed rs762309384, gnomAD rs762309384, REVEL 0.90, ESM-1b 1.00
- G53S (p.Gly53Ser), ExAC rs762309384, TOPMed rs762309384, gnomAD rs762309384, REVEL 0.87, ESM-1b 1.00
- G53T (p.Gly53Thr), NCI-TCGA Cosmic COSV1004, NCI-TCGA Cosmic COSV5866, Variant assessed as somatic; moderate impact.
- G53G (p.Gly53Gly), gnomAD 5-1201809-C-T, CADD 14.70
- N54I (p.Asn54Ile), TOPMed rs1434820971, gnomAD rs1434820971, REVEL 0.83, ESM-1b 1.00
- N54N (p.Asn54Asn), rs139760936, gnomAD 5-1201812-C-T, AlphaMissense 0.12, MetaLR 0.19
- V55M (p.Val55Met), rs199999773, ExAC rs199999773, TOPMed rs199999773, gnomAD rs199999773, REVEL 0.78, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- V55V (p.Val55Val), gnomAD 5-1201815-G-A, CADD 8.85
- W56* (p.Trp56Ter), rs1745712448, ClinGen CA359060866, ClinVar RCV003100579, TOPMed rs1745712448, Pathogenic
- W56R (p.Trp56Arg), TOPMed rs1403845937, gnomAD rs1403845937, REVEL 0.96, ESM-1b 1.00
- R57C (p.Arg57Cys), rs762989809, ClinGen CA3182581, ClinVar RCV003230934, ClinVar RCV003561254, REVEL 0.88, ESM-1b 1.00, Conflicting interpretations, Neutral 1 amino acid transport defect; not provided
- R57H (p.Arg57His), rs146608591, ClinGen CA3182583, ClinVar RCV003128306, 1000Genomes rs146608591, REVEL 0.91, ESM-1b 1.00, Likely pathogenic, Neutral 1 amino acid transport defect
- R57L (p.Arg57Leu), 1000Genomes rs146608591, ExAC rs146608591, TOPMed rs146608591, gnomAD rs146608591, REVEL 0.93, ESM-1b 1.00, Likely pathogenic, in HND
- R57P (p.Arg57Pro), 1000Genomes rs146608591, ExAC rs146608591, TOPMed rs146608591, gnomAD rs146608591, REVEL 0.95, ESM-1b 1.00, Likely pathogenic, in HND
- R57S (p.Arg57Ser), ExAC rs762989809, TOPMed rs762989809, gnomAD rs762989809, REVEL 0.90, ESM-1b 1.00, Likely pathogenic, in HND
- R57R (p.Arg57Arg), rs1745712758, gnomAD 5-1201821-C-T, AlphaMissense 0.09, MetaLR 0.15
- F58F (p.Phe58Phe), gnomAD 5-1201824-C-T, CADD 9.96
- P59L (p.Pro59Leu), gnomAD rs1434150965, REVEL 0.92, ESM-1b 1.00
- P59S (p.Pro59Ser), rs1328914708, ClinGen CA359060931, ClinVar RCV002830454, gnomAD rs1328914708, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
Public SLC6A19 analysis runs
- SLC6A19 analysis run — SLC6A19 (972 variants) — completed 2026-10-09