SLC22A8 (Organic anion transporter 3) variants and mutations
SLC22A8 (also known as Organic anion transporter 3) is a human protein-coding gene encoding an organic anion transporter 3 protein. It transports a broad range of organic anions from blood into renal proximal-tubule cells for secretion into urine. It is an important determinant of renal clearance and drug-drug interactions for numerous medications and endogenous metabolites. This analysis covers 956 SLC22A8 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes gout, Hypertension, and endothelial dysfunction. Example SLC22A8 variants include M1?, S4*, and S4L.
Variant analysis overview
- Gene: SLC22A8
- Protein: Organic anion transporter 3
- UniProt accession: Q8TCC7
- Organism: Homo sapiens
- Variants analyzed: 956
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 723 unspecified-consequence records; 104 missense variants; 104 synonymous variants; 3 in-frame deletions; 1 stop lost; 15 frameshift variants; 2 stop-gained variants; 1 protein altering variant; 3 splice-region variants
- Prediction scores: 859 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: gout, Hypertension, endothelial dysfunction, pyelonephritis, Infertility, cellulitis, neurodegenerative disease, heart failure, enteritis, uridine-cytidineuria, nonpapillary renal cell carcinoma, paroxysmal nocturnal hemoglobinuria.
Protein structure and variant hotspots
- Protein features: 11 transmembrane segments; 3 post-translational modification sites.
- Structural context: 400 variants have structural context.
- PTM context: 5 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable SLC22A8 variants
Examples include M1?, S4*, S4L, E5G, E5K, D8H, D8N, R9C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60324, Variant assessed as somatic; high impact.
- S4* (p.Ser4Ter), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60327, Variant assessed as somatic; high impact.
- S4L (p.Ser4Leu), ESP rs146789686, ExAC rs146789686, TOPMed rs146789686, gnomAD rs146789686, REVEL 0.12, MetaLR 0.14
- E5G (p.Glu5Gly), Ensembl rs2086658395
- E5K (p.Glu5Lys), cosmic curated COSV60325, REVEL 0.37, MetaLR 0.36
- D8H (p.Asp8His), ESP rs143865155, ExAC rs143865155, TOPMed rs143865155, gnomAD rs143865155, REVEL 0.11, MetaLR 0.19
- D8N (p.Asp8Asn), ESP rs143865155, ExAC rs143865155, TOPMed rs143865155, gnomAD rs143865155, REVEL 0.09, MetaLR 0.15
- R9C (p.Arg9Cys), rs1482892604, ClinGen CA380990459, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60327, REVEL 0.28, MetaLR 0.26, Uncertain significance, not specified
- R9H (p.Arg9His), rs140192234, ClinGen CA6060025, cosmic curated COSV60325, ClinVar RCV004091565, REVEL 0.09, MetaLR 0.09, Uncertain significance, not specified
- V10L (p.Val10Leu), ExAC rs770889008, TOPMed rs770889008, gnomAD rs770889008, REVEL 0.13, MetaLR 0.15
- V10M (p.Val10Met), ExAC rs770889008, TOPMed rs770889008, gnomAD rs770889008, REVEL 0.37, MetaLR 0.41
- G11E (p.Gly11Glu), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60326, REVEL 0.51, MetaLR 0.43, Variant assessed as somatic; moderate impact.
- M13I (p.Met13Ile), cosmic curated COSV10514, REVEL 0.05, MetaLR 0.09
- M13T (p.Met13Thr), gnomAD rs1255368685, REVEL 0.04, MetaLR 0.09, Uncertain significance, not specified
- G14D (p.Gly14Asp), ExAC rs760416594, gnomAD rs760416594, REVEL 0.77, MetaLR 0.60
- G14S (p.Gly14Ser), Ensembl rs2086658074
- H15N (p.His15Asn), TOPMed rs1160223165
- H15P (p.His15Pro), TOPMed rs1325562303, gnomAD rs1325562303, Likely benign
- H15R (p.His15Arg), rs1325562303, ClinGen CA380990420, ClinVar RCV004451352, TOPMed rs1325562303, REVEL 0.10, MetaLR 0.03, Likely benign, not specified
- H15Y (p.His15Tyr), TOPMed rs1160223165
- F16L (p.Phe16Leu), cosmic curated COSV60325, MetaLR 0.52, MetaSVM 0.25
- Q17* (p.Gln17Ter), cosmic curated COSV10460
- Q17H (p.Gln17His), ExAC rs11568494, TOPMed rs11568494, gnomAD rs11568494, REVEL 0.43, MetaLR 0.46
- F18L (p.Phe18Leu), TOPMed rs1348256124, gnomAD rs1348256124, REVEL 0.08, MetaLR 0.04
- F18S (p.Phe18Ser), Ensembl rs1590704005, MetaLR 0.17, MetaSVM -0.90
- H20L (p.His20Leu), Ensembl rs2086657780, MetaLR 0.18, MetaSVM -0.90
- H20Q (p.His20Gln), rs771649606, ClinGen CA6060020, ClinVar RCV004088531, ExAC rs771649606, REVEL 0.08, MetaLR 0.07, Uncertain significance, not specified
- V21I (p.Val21Ile), rs747832381, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60324, ExAC rs747832381, REVEL 0.07, MetaLR 0.07, Variant assessed as somatic; moderate impact.
- V21L (p.Val21Leu), ExAC rs747832381, TOPMed rs747832381, gnomAD rs747832381, REVEL 0.07, MetaLR 0.08
- A22P (p.Ala22Pro), gnomAD rs1300541678, REVEL 0.32, MetaLR 0.18
- A22V (p.Ala22Val), TOPMed rs1328290662, REVEL 0.08, MetaLR 0.05
- I23L (p.Ile23Leu), cosmic curated COSV10966, MetaLR 0.07, MetaSVM -1.09
- L26F (p.Leu26Phe), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, REVEL 0.06, MetaLR 0.08, Variant assessed as somatic; moderate impact.
- P27L (p.Pro27Leu), ExAC rs748777964, TOPMed rs748777964, gnomAD rs748777964, REVEL 0.54, MetaLR 0.38
- P27Q (p.Pro27Gln), ExAC rs748777964, TOPMed rs748777964, gnomAD rs748777964, REVEL 0.59, MetaLR 0.47
- N30K (p.Asn30Lys), 1000Genomes rs141819551, ExAC rs141819551, TOPMed rs141819551, gnomAD rs141819551, REVEL 0.07, MetaLR 0.10
- M31I (p.Met31Ile), gnomAD rs1255619010
- M31L (p.Met31Leu), TOPMed rs2086657319
- M31V (p.Met31Val), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60323, TOPMed rs2086657319, MetaLR 0.04, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- A32T (p.Ala32Thr), cosmic curated COSV10646
- H34D (p.His34Asp), 1000Genomes rs201886853, ExAC rs201886853, gnomAD rs201886853, REVEL 0.66, MetaLR 0.43
- N35K (p.Asn35Lys), ExAC rs752939398, gnomAD rs752939398, REVEL 0.37, MetaLR 0.29
- N35T (p.Asn35Thr), Ensembl rs1590703934, MetaLR 0.15, MetaSVM -0.94
- N35Y (p.Asn35Tyr), cosmic curated COSV60327, REVEL 0.14, MetaLR 0.18
- L36M (p.Leu36Met), ExAC rs765415190, TOPMed rs765415190, gnomAD rs765415190, REVEL 0.30, MetaLR 0.27
- L36V (p.Leu36Val), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, Variant assessed as somatic; moderate impact.
- L37P (p.Leu37Pro), Ensembl rs1565303911, REVEL 0.75, MetaLR 0.55
- I39V (p.Ile39Val), gnomAD rs1339492968, REVEL 0.14, MetaLR 0.08
- F40C (p.Phe40Cys), TOPMed rs1590703897
- F40L (p.Phe40Leu), gnomAD rs2086656887, REVEL 0.65, MetaLR 0.44
- F40S (p.Phe40Ser), TOPMed rs1590703897, MetaLR 0.49, MetaSVM 0.19
- T41A (p.Thr41Ala), TOPMed rs1249290559
- T41K (p.Thr41Lys), cosmic curated COSV60325
- T41P (p.Thr41Pro), TOPMed rs1249290559
- A43S (p.Ala43Ser), cosmic curated COSV60325, MetaLR 0.12, MetaSVM -0.96
- A43T (p.Ala43Thr), rs200181297, ClinGen CA6060004, ClinVar RCV004285965, 1000Genomes rs200181297, REVEL 0.11, MetaLR 0.11, Likely benign, not specified
- T44P (p.Thr44Pro), Ensembl rs1590703874
- V46G (p.Val46Gly), ExAC rs773200801, gnomAD rs773200801, REVEL 0.05, MetaLR 0.03
- V46I (p.Val46Ile), gnomAD rs1385643542, REVEL 0.01, MetaLR 0.07
- H47R (p.His47Arg), Ensembl rs2086656601, REVEL 0.55, MetaLR 0.48
- H47Y (p.His47Tyr), TOPMed rs1383269846, REVEL 0.36, MetaLR 0.29
- C49* (p.Cys49Ter), gnomAD rs1160637590, CADD 24.80
- C49R (p.Cys49Arg), rs1457076673, NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, gnomAD rs1457076673, REVEL 0.71, MetaLR 0.45, Variant assessed as somatic; moderate impact.
- C49Y (p.Cys49Tyr), gnomAD rs2086656492, REVEL 0.54, MetaLR 0.51
- R50C (p.Arg50Cys), rs929442101, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60326, TOPMed rs929442101, REVEL 0.34, MetaLR 0.36, Variant assessed as somatic; moderate impact.
- R50H (p.Arg50His), rs545835369, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60327, 1000Genomes rs545835369, REVEL 0.03, MetaLR 0.13, Variant assessed as somatic; moderate impact.
- P51L (p.Pro51Leu), cosmic curated COSV60327, ExAC rs761564053, TOPMed rs761564053, gnomAD rs761564053, REVEL 0.09, MetaLR 0.06
- P51Q (p.Pro51Gln), ExAC rs761564053, TOPMed rs761564053, gnomAD rs761564053, REVEL 0.17, MetaLR 0.14
- P52L (p.Pro52Leu), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60325, MetaLR 0.20, MetaSVM -0.75, Variant assessed as somatic; moderate impact.
- H53Y (p.His53Tyr), gnomAD rs1243707448, REVEL 0.10, MetaLR 0.04
- N54S (p.Asn54Ser), 1000Genomes rs374281863, ESP rs374281863, ExAC rs374281863, TOPMed rs374281863, REVEL 0.06, MetaLR 0.10, Uncertain significance, not specified
- T57A (p.Thr57Ala), TOPMed rs910506478
- T57I (p.Thr57Ile), rs371508112, ClinGen CA223637786, ClinVar RCV004451349, ESP rs371508112, REVEL 0.09, MetaLR 0.07, Uncertain significance, not specified
- G58E (p.Gly58Glu), 1000Genomes rs201611920, ExAC rs201611920, TOPMed rs201611920, gnomAD rs201611920, REVEL 0.02, MetaLR 0.04, Uncertain significance, not specified
- P59S (p.Pro59Ser), cosmic curated COSV10514, REVEL 0.01, MetaLR 0.04
- W60* (p.Trp60Ter), cosmic curated COSV10732, TOPMed rs1332226496, gnomAD rs1332226496, CADD 35.00
- W60C (p.Trp60Cys), cosmic curated COSV60326, REVEL 0.13, MetaLR 0.10
- W60R (p.Trp60Arg), gnomAD rs1289061749, REVEL 0.17, MetaLR 0.06
- V61L (p.Val61Leu), cosmic curated COSV60326, gnomAD rs1247568601, REVEL 0.05, MetaLR 0.02
- L62F (p.Leu62Phe), Ensembl rs2086655854, REVEL 0.11, MetaLR 0.11
- L62P (p.Leu62Pro), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, Variant assessed as somatic; moderate impact.
- M64T (p.Met64Thr), TOPMed rs2086655765, gnomAD rs2086655765
- G65D (p.Gly65Asp), ExAC rs747501154, gnomAD rs747501154, REVEL 0.13, MetaLR 0.08
- P66L (p.Pro66Leu), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60326, gnomAD rs2086655712, REVEL 0.14, MetaLR 0.09, Variant assessed as somatic; moderate impact.
- N67D (p.Asn67Asp), Ensembl rs2086655682, REVEL 0.05, MetaLR 0.13
- N67S (p.Asn67Ser), ExAC rs778470060, gnomAD rs778470060, REVEL 0.05, MetaLR 0.21
- G68E (p.Gly68Glu), rs202159634, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60324, 1000Genomes rs202159634, REVEL 0.18, MetaLR 0.30, Variant assessed as somatic; moderate impact.
- G68R (p.Gly68Arg), cosmic curated COSV60324
- P70A (p.Pro70Ala), ExAC rs758755852, gnomAD rs758755852, REVEL 0.41, MetaLR 0.40
- P70S (p.Pro70Ser), ExAC rs758755852, gnomAD rs758755852, MetaLR 0.49, MetaSVM -0.03
- P70T (p.Pro70Thr), ExAC rs758755852, gnomAD rs758755852, REVEL 0.21, MetaLR 0.29
- E71D (p.Glu71Asp), TOPMed rs1383064459, gnomAD rs1383064459, REVEL 0.03, MetaLR 0.17
- E71K (p.Glu71Lys), cosmic curated COSV60324, ExAC rs748490019, TOPMed rs748490019, gnomAD rs748490019, REVEL 0.23, MetaLR 0.40
- E71Q (p.Glu71Gln), cosmic curated COSV10813, MetaLR 0.17, MetaSVM -0.94
- R72S (p.Arg72Ser), ExAC rs755172993, TOPMed rs755172993, gnomAD rs755172993, REVEL 0.06, MetaLR 0.09
- R72T (p.Arg72Thr), gnomAD rs1390318378, MetaLR 0.08, MetaSVM -1.03
- C73R (p.Cys73Arg), gnomAD rs1426749519
- C73W (p.Cys73Trp), cosmic curated COSV10460, MetaLR 0.63, MetaSVM 0.50
- L74F (p.Leu74Phe), rs370233107, ClinGen CA6059988, ClinVar RCV004451350, ExAC rs370233107, REVEL 0.36, MetaLR 0.49, Uncertain significance, not specified
- L74S (p.Leu74Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R75C (p.Arg75Cys), rs766443125, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60324, ExAC rs766443125, REVEL 0.69, MetaLR 0.52, Uncertain significance, not specified
- R75H (p.Arg75His), cosmic curated COSV60324, ESP rs148569801, ExAC rs148569801, TOPMed rs148569801, REVEL 0.48, MetaLR 0.54
- R75L (p.Arg75Leu), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, MetaLR 0.56, MetaSVM 0.31, Variant assessed as somatic; moderate impact.
- H78L (p.His78Leu), Ensembl rs2086655092, REVEL 0.12, MetaLR 0.16
- H78Y (p.His78Tyr), TOPMed rs2086655124, REVEL 0.09, MetaLR 0.14
- P79A (p.Pro79Ala), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, Variant assessed as somatic; moderate impact.
- P79L (p.Pro79Leu), 1000Genomes rs554839332, ExAC rs554839332, TOPMed rs554839332, gnomAD rs554839332, REVEL 0.15, MetaLR 0.33
- P79Q (p.Pro79Gln), 1000Genomes rs554839332, ExAC rs554839332, TOPMed rs554839332, gnomAD rs554839332, REVEL 0.34, MetaLR 0.65
- P80L (p.Pro80Leu), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60324, MetaLR 0.39, MetaSVM -0.80, Variant assessed as somatic; moderate impact.
- P80R (p.Pro80Arg), gnomAD rs1266374596, REVEL 0.32, MetaLR 0.49
- N81D (p.Asn81Asp), ExAC rs761618758, gnomAD rs761618758, REVEL 0.42, MetaLR 0.56
- N81S (p.Asn81Ser), rs774027900, NCI-TCGA Cosmic COSV6032, cosmic curated COSV60326, ExAC rs774027900, REVEL 0.41, MetaLR 0.57, Variant assessed as somatic; moderate impact.
- A82T (p.Ala82Thr), TOPMed rs912116087, gnomAD rs912116087, REVEL 0.10, MetaLR 0.29
- S83N (p.Ser83Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P85L (p.Pro85Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P85S (p.Pro85Ser), cosmic curated COSV60326, TOPMed rs1212292629, gnomAD rs1212292629, REVEL 0.21, MetaLR 0.22
- N86D (p.Asn86Asp), rs2539656383, ClinGen CA380989832, ClinVar RCV004265473, Uncertain significance, not specified
- N86S (p.Asn86Ser), gnomAD rs1338023381, REVEL 0.37, MetaLR 0.48
- D87G (p.Asp87Gly), TOPMed rs2086654703, REVEL 0.03, MetaLR 0.13
- D87N (p.Asp87Asn), ExAC rs762504589, gnomAD rs762504589, MetaLR 0.16, MetaSVM -0.93
- Q89H (p.Gln89His), NCI-TCGA Cosmic COSV6032, cosmic curated COSV60325, Variant assessed as somatic; moderate impact.
- Q89K (p.Gln89Lys), cosmic curated COSV60324
- R90K (p.Arg90Lys), gnomAD rs1228653354, REVEL 0.13, MetaLR 0.15
- A91S (p.Ala91Ser), gnomAD rs1301652904, REVEL 0.04, MetaLR 0.13
- M92I (p.Met92Ile), ExAC rs775340462, gnomAD rs775340462
- M92K (p.Met92Lys), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, Variant assessed as somatic; moderate impact.
- M92L (p.Met92Leu), TOPMed rs2086654594
- M92T (p.Met92Thr), TOPMed rs1407054112, gnomAD rs1407054112, MetaLR 0.10, MetaSVM -0.99
- E93K (p.Glu93Lys), cosmic curated COSV10460, ExAC rs769406017, gnomAD rs769406017, REVEL 0.37, MetaLR 0.48
- P94S (p.Pro94Ser), cosmic curated COSV60327, REVEL 0.48, MetaLR 0.53
- P94T (p.Pro94Thr), ExAC rs745409688, gnomAD rs745409688
- C95Y (p.Cys95Tyr), TOPMed rs955842693, REVEL 0.90, MetaLR 0.84
- L96P (p.Leu96Pro), TOPMed rs2086654346, gnomAD rs2086654346, REVEL 0.57, MetaLR 0.46
- G98D (p.Gly98Asp), NCI-TCGA TCGA novel, REVEL 0.83, MetaLR 0.75, Variant assessed as somatic; moderate impact.
- W99* (p.Trp99Ter), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, TOPMed rs928963210, gnomAD rs928963210, CADD 37.00, Variant assessed as somatic; high impact.
- W99S (p.Trp99Ser), TOPMed rs928963210, gnomAD rs928963210, REVEL 0.82, MetaLR 0.80
- V100F (p.Val100Phe), Ensembl rs1223712698
- N102S (p.Asn102Ser), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, MetaLR 0.29, MetaSVM -0.74, Variant assessed as somatic; moderate impact.
- S103G (p.Ser103Gly), cosmic curated COSV10732, MetaLR 0.21, MetaSVM -0.92
- T104A (p.Thr104Ala), TOPMed rs2086654046
- T104I (p.Thr104Ile), TOPMed rs2086654021, REVEL 0.06, MetaLR 0.14
- D106N (p.Asp106Asn), cosmic curated COSV10460, REVEL 0.10, MetaLR 0.11
- I108T (p.Ile108Thr), TOPMed rs1373884407, REVEL 0.56, MetaLR 0.43
- I108V (p.Ile108Val), TOPMed rs2086653913, REVEL 0.30, MetaLR 0.36
- V109M (p.Val109Met), ExAC rs772480801, TOPMed rs772480801, gnomAD rs772480801, REVEL 0.58, MetaLR 0.85, Uncertain significance, not specified
- T110A (p.Thr110Ala), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, Variant assessed as somatic; moderate impact.
- E111A (p.Glu111Ala), Ensembl rs1035492866
- E111D (p.Glu111Asp), Ensembl rs2086653678, REVEL 0.40, MetaLR 0.32
- E111K (p.Glu111Lys), gnomAD rs1201305593, REVEL 0.50, MetaLR 0.41
- E111Q (p.Glu111Gln), cosmic curated COSV10732, REVEL 0.37, MetaLR 0.37
- W112C (p.Trp112Cys), cosmic curated COSV10966, MetaLR 0.74, MetaSVM 0.64
- W112R (p.Trp112Arg), ExAC rs745877843, gnomAD rs745877843, REVEL 0.85, MetaLR 0.74
- D113N (p.Asp113Asn), NCI-TCGA TCGA novel, REVEL 0.14, MetaLR 0.12, Variant assessed as somatic; moderate impact.
- L114F (p.Leu114Phe), ExAC rs781123967, gnomAD rs781123967, REVEL 0.60, MetaLR 0.45
- C116* (p.Cys116Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- C116R (p.Cys116Arg), ExAC rs751429633, gnomAD rs751429633, REVEL 0.71, MetaLR 0.78
- C116Y (p.Cys116Tyr), TOPMed rs2086484784, MetaLR 0.79, MetaSVM 0.79
- N117S (p.Asn117Ser), ExAC rs777806244, gnomAD rs777806244, REVEL 0.20, MetaLR 0.13
- S118F (p.Ser118Phe), gnomAD rs2086484669, REVEL 0.21, MetaLR 0.17
- K120* (p.Lys120Ter), ESP rs143948358, ExAC rs143948358, TOPMed rs143948358, gnomAD rs143948358
- K120Q (p.Lys120Gln), ESP rs143948358, ExAC rs143948358, TOPMed rs143948358, gnomAD rs143948358
- L121M (p.Leu121Met), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10026, Variant assessed as somatic; moderate impact.
- L121P (p.Leu121Pro), rs752560586, ExAC rs752560586, TOPMed rs752560586, gnomAD rs752560586, REVEL 0.78, MetaLR 0.59, Uncertain significance, not specified
- K122N (p.Lys122Asn), cosmic curated COSV10026, ExAC rs764926810, TOPMed rs764926810, gnomAD rs764926810, REVEL 0.42, MetaLR 0.40
- K122Q (p.Lys122Gln), TOPMed rs1367875873, REVEL 0.42, MetaLR 0.38, Uncertain significance, not specified
- E123G (p.Glu123Gly), Ensembl rs2135127807, REVEL 0.21, MetaLR 0.15
- A125P (p.Ala125Pro), cosmic curated COSV60324
- A125T (p.Ala125Thr), cosmic curated COSV60327
- A125V (p.Ala125Val), cosmic curated COSV10884, REVEL 0.32, MetaLR 0.27
- S127Y (p.Ser127Tyr), TOPMed rs2086484365, gnomAD rs2086484365, REVEL 0.60, MetaLR 0.56
- F129L (p.Phe129Leu), rs11568479, UniProt VAR 030146, TOPMed rs11568479, gnomAD rs11568479, REVEL 0.16, MetaLR 0.25
- M130I (p.Met130Ile), Ensembl rs2086484199, REVEL 0.75, MetaLR 0.67
- A131G (p.Ala131Gly), gnomAD rs1241862157, REVEL 0.40, MetaLR 0.40
- A131V (p.Ala131Val), gnomAD rs1241862157, MetaLR 0.35, MetaSVM -0.35
- G132S (p.Gly132Ser), gnomAD rs1186012350, REVEL 0.88, MetaLR 0.73
- I133L (p.Ile133Leu), ExAC rs765793802, gnomAD rs765793802
- I133V (p.Ile133Val), ExAC rs765793802, gnomAD rs765793802, MetaLR 0.25, MetaSVM -0.70
- L134P (p.Leu134Pro), gnomAD rs1318964190, REVEL 0.81, MetaLR 0.68
- I135T (p.Ile135Thr), NCI-TCGA TCGA novel, REVEL 0.44, MetaLR 0.48, Variant assessed as somatic; moderate impact.
- L138F (p.Leu138Phe), TOPMed rs2086483797
Public SLC22A8 analysis runs
- SLC22A8 analysis run — SLC22A8 (956 variants) — completed 2026-08-20