SLC26A2 (Sulfate transporter) variants and mutations
SLC26A2 (also known as Sulfate transporter) is a human protein-coding gene encoding a sulfate transporter protein. A sulfate transporter that supplies chondrocytes with sulfate for cartilage proteoglycan production. Variants cause a spectrum of skeletal disorders, including diastrophic dysplasia. This analysis covers 1,218 SLC26A2 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes multiple epiphyseal dysplasia type 4, achondrogenesis type IB, and atelosteogenesis type II. Example SLC26A2 variants include M1I, S2F, and S3S.
Variant analysis overview
- Gene: SLC26A2
- Protein: Sulfate transporter
- UniProt accession: P50443
- Organism: Homo sapiens
- Variants analyzed: 1218
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 855 unspecified-consequence records; 153 synonymous variants; 37 frameshift variants; 185 missense variants; 4 in-frame insertions; 9 in-frame deletions; 7 stop-gained variants; 1 splice-region variants; 3 substitution
- Prediction scores: 1,169 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: multiple epiphyseal dysplasia type 4, achondrogenesis type IB, atelosteogenesis type II, diastrophic dysplasia, osteochondrodysplasia, multiple epiphyseal dysplasia, SLC26A2-related skeletal dysplasia, sulfate transporter-related osteochondrodysplasia, Joubert syndrome and related disorders, connective tissue disorder, 3MC syndrome 2, hereditary disease.
Protein structure and variant hotspots
- Protein features: 8 transmembrane segments; 1 domains; 5 post-translational modification sites.
- Structural context: 474 variants have structural context.
- PTM context: 11 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 SLC26A2
Notable SLC26A2 variants
Examples include M1I, S2F, S3S, E4G, S5I, S5N, S5R, S5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1554095084, ClinGen CA361703754, ClinVar RCV000665913, ClinVar RCV006640840, ESM-1b 1.00, AlphaMissense 0.30, Likely pathogenic, Achondrogenesis, type IB
- S2F (p.Ser2Phe), gnomAD rs1238936538, REVEL 0.42, ESM-1b 0.00
- S3S (p.Ser3Ser), gnomAD 5-149977661-A-T, CADD 0.70
- E4G (p.Glu4Gly), gnomAD 5-149977663-A-G, REVEL 0.17, ESM-1b 0.00
- S5I (p.Ser5Ile), ExAC rs779722346, gnomAD rs779722346, REVEL 0.26, ESM-1b 0.00
- S5N (p.Ser5Asn), ExAC rs779722346, gnomAD rs779722346, REVEL 0.27, ESM-1b 0.00
- S5R (p.Ser5Arg), rs1459144096, gnomAD 5-149977662-GAAAG, CADD 23.20
- S5G (p.Ser5Gly), gnomAD 5-149977665-A-G, REVEL 0.25, ESM-1b 0.00
- S5S (p.Ser5Ser), rs539335443, gnomAD 5-149977667-T-C, CADD 9.31
- E7G (p.Glu7Gly), gnomAD rs1473390687, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Atelosteogenesis type II; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- E7K (p.Glu7Lys), TOPMed rs1390775746, REVEL 0.28, ESM-1b 0.00
- E7E (p.Glu7Glu), rs768964077, gnomAD 5-149977673-G-A, CADD 5.04
- Q8Q (p.Gln8Gln), rs372345029, gnomAD 5-149977676-A-G, CADD 4.01
- H9D (p.His9Asp), rs151076648, ClinGen CA3505188, ClinVar RCV002771439, ClinVar RCV002805845, REVEL 0.28, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases; Atelosteogenesis type II
- H9P (p.His9Pro), ESP rs374715321, TOPMed rs374715321, ESM-1b 0.00, AlphaMissense 0.06
- H9R (p.His9Arg), ESP rs374715321, TOPMed rs374715321, REVEL 0.23, ESM-1b 0.00
- H9Y (p.His9Tyr), ESP rs151076648, ExAC rs151076648, TOPMed rs151076648, gnomAD rs151076648, REVEL 0.22, ESM-1b 0.00, Uncertain significance
- N10D (p.Asn10Asp), Ensembl rs2113695454, REVEL 0.22, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- p.Asn10 Val11insGluHisAsn, gnomAD 5-149977674-C-CAA, CADD 11.50
- N10N (p.Asn10Asn), rs532261155, gnomAD 5-149977682-C-T, CADD 1.24
- V11F (p.Val11Phe), ExAC rs770366919, gnomAD rs770366919, REVEL 0.34, ESM-1b 0.00, Uncertain significance
- V11G (p.Val11Gly), ExAC rs763171087, gnomAD rs763171087, REVEL 0.26, ESM-1b 0.00
- V11I (p.Val11Ile), rs770366919, ClinGen CA3505190, NCI-TCGA Cosmic COSV5382, ClinVar RCV003136754, REVEL 0.30, ESM-1b 0.00, Uncertain significance, not provided
- S12A (p.Ser12Ala), gnomAD 5-149977686-T-G, REVEL 0.20, ESM-1b 0.00
- S12S (p.Ser12Ser), rs1326233262, gnomAD 5-149977688-A-G, CADD 3.89
- P13L (p.Pro13Leu), ExAC rs766531442, gnomAD rs766531442, REVEL 0.24, ESM-1b 0.00
- P13R (p.Pro13Arg), ExAC rs766531442, gnomAD rs766531442, ESM-1b 0.00, AlphaMissense 0.07
- P13S (p.Pro13Ser), gnomAD 5-149977689-C-T, REVEL 0.22, ESM-1b 0.00
- R14E (p.Arg14Glu), gnomAD 5-149977691-CA-C, CADD 16.10
- R14G (p.Arg14Gly), gnomAD 5-149977692-A-G, REVEL 0.23, ESM-1b 0.00
- D15H (p.Asp15His), gnomAD rs1245396440, REVEL 0.25, ESM-1b 0.00
- D15Y (p.Asp15Tyr), gnomAD rs1245396440, REVEL 0.32, ESM-1b 0.00
- D15V (p.Asp15Val), gnomAD 5-149977696-A-T, REVEL 0.33, ESM-1b 0.00
- S16* (p.Ser16Ter), rs386833505, ClinGen CA263266, ClinVar RCV000049433, ClinVar RCV003474628, Likely pathogenic
- S16L (p.Ser16Leu), TOPMed rs386833505, gnomAD rs386833505, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S16A (p.Ser16Ala), gnomAD 5-149977698-T-G, REVEL 0.24, ESM-1b 0.00
- A17A (p.Ala17Ala), rs369248348, gnomAD 5-149977703-T-G, CADD 7.73
- G19A (p.Gly19Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G19* (p.Gly19Ter), rs386833507, ClinGen CA263272, ClinVar RCV000049435, ClinVar RCV000780714, CADD 35.00, Pathogenic
- N20I (p.Asn20Ile), gnomAD 5-149977711-A-T, REVEL 0.23, ESM-1b 0.00
- N20S (p.Asn20Ser), gnomAD 5-149977711-A-G, REVEL 0.20, ESM-1b 0.00
- D21G (p.Asp21Gly), Ensembl rs2113695494, ESM-1b 0.00, AlphaMissense 0.07
- D21D (p.Asp21Asp), rs1332403618, gnomAD 5-149977715-C-T, CADD 1.96
- S22G (p.Ser22Gly), TOPMed rs1755016700, REVEL 0.20, ESM-1b 0.00
- S22I (p.Ser22Ile), TOPMed rs767351999, REVEL 0.26, ESM-1b 0.00
- S22N (p.Ser22Asn), TOPMed rs767351999, ESM-1b 0.00, AlphaMissense 0.07
- Y23H (p.Tyr23His), ExAC rs774777482, gnomAD rs774777482, ESM-1b 0.00, AlphaMissense 0.07
- Y23Y (p.Tyr23Tyr), rs1258968012, gnomAD 5-149977721-T-C, CADD 3.37
- P24L (p.Pro24Leu), gnomAD rs1247794843, REVEL 0.19, ESM-1b 0.00
- P24R (p.Pro24Arg), gnomAD 5-149977723-C-G, REVEL 0.22, ESM-1b 0.00
- P24P (p.Pro24Pro), rs759789848, gnomAD 5-149977724-A-C, CADD 2.57
- S25C (p.Ser25Cys), rs750742962, ClinGen CA129082207, ClinVar RCV003084458, Ensembl rs750742962, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- S25F (p.Ser25Phe), gnomAD 5-149977726-C-T, REVEL 0.22, ESM-1b 0.00
- S25S (p.Ser25Ser), rs1755017011, gnomAD 5-149977727-T-C, CADD 3.79
- G26R (p.Gly26Arg), gnomAD 5-149977728-G-A, REVEL 0.15, ESM-1b 0.00
- G26V (p.Gly26Val), gnomAD 5-149977729-G-T, REVEL 0.14, ESM-1b 0.00
- G26G (p.Gly26Gly), rs767575929, gnomAD 5-149977730-G-A, CADD 0.58
- I27M (p.Ile27Met), rs387907491, ClinGen CA216028, ClinVar RCV000054573, TOPMed rs387907491, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, not provided
- I27V (p.Ile27Val), ExAC rs753669585, TOPMed rs753669585, gnomAD rs753669585, REVEL 0.15, ESM-1b 0.00
- I27I (p.Ile27Ile), rs387907491, gnomAD 5-149977733-C-T, CADD 5.44
- H28Q (p.His28Gln), TOPMed rs1443550023, gnomAD rs1443550023, REVEL 0.20, ESM-1b 0.00
- H28R (p.His28Arg), rs2480770095, ClinGen CA361703929, ClinVar RCV004456665, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases
- E30K (p.Glu30Lys), gnomAD rs1479232044, ESM-1b 0.00, AlphaMissense 0.08
- E30G (p.Glu30Gly), gnomAD 5-149977741-A-G, REVEL 0.25, ESM-1b 0.00
- E30E (p.Glu30Glu), gnomAD 5-149977742-A-G, CADD 5.08
- Q32L (p.Gln32Leu), rs978424390, ClinGen CA129082222, ClinVar RCV003090900, ClinVar RCV004071811, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Achondrogenesis, type IB; Multiple epiphyseal dysplasia
- Q32Q (p.Gln32Gln), rs371478671, gnomAD 5-149977748-A-G, CADD 6.62
- R33K (p.Arg33Lys), Ensembl rs1755017472, ESM-1b 0.00, AlphaMissense 0.06
- R33W (p.Arg33Trp), gnomAD 5-149977749-A-T, REVEL 0.24, ESM-1b 0.40
- E34D (p.Glu34Asp), gnomAD rs1171774561, REVEL 0.24, ESM-1b 0.00
- E34N (p.Glu34Asn), rs2113695568, gnomAD 5-149977749-AG-A, CADD 17.80
- S35* (p.Ser35Ter), rs1755017552, ClinGen CA361703990, ClinVar RCV002872377, gnomAD rs1755017552, CADD 33.00, Pathogenic
- S35T (p.Ser35Thr), gnomAD 5-149977755-T-A, REVEL 0.24, ESM-1b 0.00
- S35S (p.Ser35Ser), rs765269781, gnomAD 5-149977757-A-G, CADD 6.52
- S36N (p.Ser36Asn), TOPMed rs1755017593, ESM-1b 0.00, AlphaMissense 0.07
- S36R (p.Ser36Arg), ExAC rs750331388, TOPMed rs750331388, gnomAD rs750331388, REVEL 0.26, ESM-1b 0.00
- S36G (p.Ser36Gly), gnomAD 5-149977758-A-G, REVEL 0.24, ESM-1b 0.00
- T37A (p.Thr37Ala), gnomAD rs1165698640, REVEL 0.22, ESM-1b 0.00
- T37S (p.Thr37Ser), gnomAD 5-149977761-A-T, REVEL 0.28, ESM-1b 0.00
- D38N (p.Asp38Asn), ExAC rs757970578, gnomAD rs757970578, REVEL 0.23, ESM-1b 0.00
- D38Y (p.Asp38Tyr), ExAC rs757970578, gnomAD rs757970578, REVEL 0.55, ESM-1b 0.00
- D38T (p.Asp38Thr), rs1395122785, gnomAD 5-149977762-CT-C, CADD 23.50
- D38D (p.Asp38Asp), rs779527254, gnomAD 5-149977766-C-T, CADD 9.03
- F39L (p.Phe39Leu), rs376023150, ClinGen CA3505204, ClinVar RCV002957958, ClinVar RCV005483260, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- K40* (p.Lys40Ter), rs2480770209, ClinGen CA361704038, ClinVar RCV003020212, Pathogenic
- K40R (p.Lys40Arg), ExAC rs780672012, gnomAD rs780672012, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Achondrogenesis, type IB
- K40Q (p.Lys40Gln), gnomAD 5-149977770-A-C, REVEL 0.16, ESM-1b 0.00
- Q41L (p.Gln41Leu), ExAC rs748570555, TOPMed rs748570555, gnomAD rs748570555, REVEL 0.41, ESM-1b 0.00
- F42S (p.Phe42Ser), ExAC rs770030403, gnomAD rs770030403, REVEL 0.25, ESM-1b 0.00
- F42I (p.Phe42Ile), gnomAD 5-149977776-T-A, REVEL 0.27, ESM-1b 0.00
- E43V (p.Glu43Val), gnomAD rs1250888818, REVEL 0.30, ESM-1b 0.00
- E43A (p.Glu43Ala), gnomAD 5-149977780-A-C, REVEL 0.26, ESM-1b 0.00
- E43D (p.Glu43Asp), gnomAD 5-149977781-G-C, REVEL 0.24, ESM-1b 0.00
- T44A (p.Thr44Ala), gnomAD rs1345804076, REVEL 0.13, ESM-1b 0.00
- T44I (p.Thr44Ile), NCI-TCGA Cosmic COSV9963, Ensembl rs1755018488, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- T44T (p.Thr44Thr), rs1202182617, gnomAD 5-149977784-C-A, CADD 5.58
- N45S (p.Asn45Ser), rs773892702, ClinGen CA3505208, ClinVar RCV001985050, ExAC rs773892702, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Diastrophic dysplasia; Atelosteogenesis type II; Multiple epiphyseal dysplasia t
- D46D (p.Asp46Asp), rs749804704, gnomAD 5-149977790-T-C, CADD 1.35
- Q47* (p.Gln47Ter), rs1755018723, ClinGen CA361704122, ClinVar RCV003472853, CADD 26.90, Likely pathogenic
- Q47H (p.Gln47His), TOPMed rs1194896006, gnomAD rs1194896006, ESM-1b 0.00, AlphaMissense 0.09, Likely benign
- Q47K (p.Gln47Lys), TOPMed rs1755018723, ESM-1b 0.00, AlphaMissense 0.07, Likely pathogenic
- Q47R (p.Gln47Arg), gnomAD 5-149977792-A-G, REVEL 0.23, ESM-1b 0.00
- Q47Q (p.Gln47Gln), rs1194896006, gnomAD 5-149977793-A-G, CADD 1.40
- C48G (p.Cys48Gly), gnomAD 5-149977794-T-G, REVEL 0.38, ESM-1b 0.00
- R49S (p.Arg49Ser), TOPMed rs1755018918, ESM-1b 0.00, AlphaMissense 0.15
- R49D (p.Arg49Asp), rs1265764649, gnomAD 5-149977796-CA-C, CADD 19.80
- P50L (p.Pro50Leu), rs1755018969, ClinGen CA361704162, ClinVar RCV001296270, Ensembl rs1755018969, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- H52R (p.His52Arg), gnomAD rs1190567620, REVEL 0.22, ESM-1b 0.00
- H52Y (p.His52Tyr), ExAC rs771193050, gnomAD rs771193050, REVEL 0.21, ESM-1b 0.00
- H52del (p.His52del), gnomAD 5-149977803-TATC-, CADD 3.58
- R53K (p.Arg53Lys), ExAC rs774585651, gnomAD rs774585651, REVEL 0.36, ESM-1b 0.00, Uncertain significance, SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Diastrophic dysplas
- R53S (p.Arg53Ser), ExAC rs766615254, gnomAD rs766615254, ESM-1b 0.00, AlphaMissense 0.36, Likely benign
- R53G (p.Arg53Gly), gnomAD 5-149977809-A-G, REVEL 0.38, ESM-1b 0.00
- R53R (p.Arg53Arg), rs766615254, gnomAD 5-149977811-G-A, CADD 5.77
- I54I (p.Ile54Ile), gnomAD 5-149977814-C-T, CADD 0.68
- I56L (p.Ile56Leu), ExAC rs767810188, TOPMed rs767810188, gnomAD rs767810188, REVEL 0.23, ESM-1b 0.00
- I56T (p.Ile56Thr), TOPMed rs1433995701, gnomAD rs1433995701, REVEL 0.29, ESM-1b 0.00
- E57* (p.Glu57Ter), gnomAD 5-149977821-G-T, CADD 34.00
- E57G (p.Glu57Gly), gnomAD 5-149977822-A-G, REVEL 0.55, ESM-1b 0.00
- R58C (p.Arg58Cys), rs369318758, ClinGen CA216019, ClinVar RCV000054570, ClinVar RCV001069051, REVEL 0.26, ESM-1b 0.00, Conflicting interpretations, SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Multiple epiphyseal
- R58G (p.Arg58Gly), ESP rs369318758, ExAC rs369318758, TOPMed rs369318758, gnomAD rs369318758, REVEL 0.27, ESM-1b 0.00, Likely benign
- R58H (p.Arg58His), rs199893058, ClinGen CA3505216, ClinVar RCV001459546, ClinVar RCV003136080, REVEL 0.24, ESM-1b 0.00, Conflicting interpretations, Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia
- Q59R (p.Gln59Arg), gnomAD 5-149977827-CAA-C, CADD 13.80
- E60D (p.Glu60Asp), gnomAD 5-149977832-G-T, REVEL 0.24, ESM-1b 0.00
- S62* (p.Ser62Ter), rs1057517523, ClinGen CA16040984, ClinVar RCV000409043, ClinVar RCV000409914, Likely pathogenic
- S62L (p.Ser62Leu), gnomAD 5-149977837-C-T, REVEL 0.20, ESM-1b 0.00
- S62S (p.Ser62Ser), rs1380811777, gnomAD 5-149977838-A-G, CADD 6.36
- D63G (p.Asp63Gly), rs1755019690, ClinGen CA361704300, ClinVar RCV001090374, Ensembl rs1755019690, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- D63V (p.Asp63Val), Ensembl rs1755019690, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- D63H (p.Asp63His), gnomAD 5-149977839-G-C, REVEL 0.18, ESM-1b 0.00
- T64R (p.Thr64Arg), TOPMed rs1755019762, gnomAD rs1755019762, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- N65D (p.Asn65Asp), rs755049614, ClinGen CA3505217, ClinVar RCV001418391, ClinVar RCV002554073, REVEL 0.14, ESM-1b 0.00, Conflicting interpretations, not specified; Atelosteogenesis type II; Diastrophic dysplasia
- F66L (p.Phe66Leu), rs200981220, ClinGen CA3505218, ClinVar RCV001434148, ClinVar RCV001751765, REVEL 0.18, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided; Diastrophic dysplasia
- F66V (p.Phe66Val), gnomAD 5-149977848-T-G, REVEL 0.15, ESM-1b 0.00
- K67* (p.Lys67Ter), ExAC rs766241120, gnomAD rs766241120, CADD 35.00, Uncertain significance
- K67Q (p.Lys67Gln), rs766241120, ClinGen CA361704338, ClinVar RCV002720866, REVEL 0.40, ESM-1b 0.02, Uncertain significance, Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Diastrophic dysp
- E68K (p.Glu68Lys), ExAC rs751114545, gnomAD rs751114545, REVEL 0.32, ESM-1b 0.00
- E68E (p.Glu68Glu), rs754399633, gnomAD 5-149977856-G-A, CADD 1.56
- F69L (p.Phe69Leu), rs2480770420, ClinGen CA361704366, ClinVar RCV003008295, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- V70A (p.Val70Ala), gnomAD rs868242956, REVEL 0.32, ESM-1b 0.00
- V70L (p.Val70Leu), TOPMed rs1217971274, gnomAD rs1217971274, REVEL 0.19, ESM-1b 0.00
- I71T (p.Ile71Thr), Ensembl rs747452414, REVEL 0.27, ESM-1b 0.00
- K72* (p.Lys72Ter), rs1479713112, ClinGen CA361704394, ClinVar RCV003026334, ClinVar RCV004572579, CADD 34.00, Pathogenic
- K72Q (p.Lys72Gln), gnomAD 5-149977866-A-C, REVEL 0.17, ESM-1b 0.00
- K72K (p.Lys72Lys), rs1755020230, gnomAD 5-149977868-A-G, CADD 8.76
- K73K (p.Lys73Lys), gnomAD 5-149977871-G-A, CADD 6.01
- L74R (p.Leu74Arg), Ensembl rs1755020279, ESM-1b 1.00, AlphaMissense 0.26
- L74L (p.Leu74Leu), rs377685351, gnomAD 5-149977874-G-A, CADD 2.63
- Q75R (p.Gln75Arg), rs2480770468, ClinVar RCV004573626, ESM-1b 0.00, AlphaMissense 0.06, Likely pathogenic
- p.Gln75dup, gnomAD 5-149977873-T-TGC, CADD 16.40
- Q75* (p.Gln75Ter), gnomAD 5-149977875-C-T, CADD 34.00
- Q75P (p.Gln75Pro), gnomAD 5-149977876-A-C, REVEL 0.47, ESM-1b 1.00
- K76del (p.Lys76del), rs1204857377, gnomAD 5-149977875-CAGA-, CADD 17.80
- K76* (p.Lys76Ter), gnomAD 5-149977878-A-T, CADD 35.00
- K76Q (p.Lys76Gln), gnomAD 5-149977878-A-C, REVEL 0.37, ESM-1b 0.00
- K76T (p.Lys76Thr), gnomAD 5-149977879-A-C, REVEL 0.50, ESM-1b 0.00
- K76K (p.Lys76Lys), rs2113695768, gnomAD 5-149977880-G-A, CADD 9.28
- N77H (p.Asn77His), rs76784312, ClinGen CA3505223, ClinVar RCV000398136, ClinVar RCV000539759, REVEL 0.34, ESM-1b 0.00, Conflicting interpretations, Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Diastrophic dysp
- C78T (p.Cys78Thr), NCI-TCGA Cosmic COSV9964, Variant assessed as somatic; moderate impact.
- C78W (p.Cys78Trp), ExAC rs756565445, REVEL 0.77, ESM-1b 0.33
- Q79* (p.Gln79Ter), rs1755020578, ClinGen CA361704482, ClinVar RCV001253229, ClinVar RCV003770313, Pathogenic
- Q79H (p.Gln79His), gnomAD 5-149977889-G-C, REVEL 0.28, ESM-1b 0.00
- C80T (p.Cys80Thr), NCI-TCGA Cosmic COSV5382, Variant assessed as somatic; moderate impact.
- C80Y (p.Cys80Tyr), gnomAD 5-149977891-G-A, REVEL 0.87, ESM-1b 1.00
- S81S (p.Ser81Ser), gnomAD 5-149977895-T-C, CADD 7.61
- P82S (p.Pro82Ser), TOPMed rs1755020673, ESM-1b 0.00, AlphaMissense 0.08
- P82A (p.Pro82Ala), rs1057517504, gnomAD 5-149977886-C-CCA, CADD 25.90
- P82P (p.Pro82Pro), gnomAD 5-149977898-A-C, CADD 8.61
- A83T (p.Ala83Thr), gnomAD 5-149977899-G-A, REVEL 0.17, ESM-1b 0.00
- A83G (p.Ala83Gly), gnomAD 5-149977900-C-G, REVEL 0.23, ESM-1b 0.00
- A83A (p.Ala83Ala), gnomAD 5-149977901-C-G, CADD 10.70
- K84T (p.Lys84Thr), gnomAD 5-149977903-A-C, REVEL 0.48, ESM-1b 1.00
- K86N (p.Lys86Asn), gnomAD 5-149977910-A-C, REVEL 0.45, ESM-1b 1.00
- M88I (p.Met88Ile), rs1204157806, ClinGen CA361704596, ClinVar RCV002574154, ClinVar RCV006451262, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis
- M88T (p.Met88Thr), ExAC rs778265659, TOPMed rs778265659, gnomAD rs778265659, REVEL 0.20, ESM-1b 0.00
- M88R (p.Met88Arg), gnomAD 5-149977914-AT-A, CADD 13.20
- I89S (p.Ile89Ser), gnomAD rs1200428645, REVEL 0.62, ESM-1b 0.28
- I89V (p.Ile89Val), gnomAD 5-149977917-A-G, REVEL 0.15, ESM-1b 0.00
- I89M (p.Ile89Met), gnomAD 5-149977919-T-G, REVEL 0.39, ESM-1b 0.00
- G91D (p.Gly91Asp), ExAC rs749607301, TOPMed rs749607301, gnomAD rs749607301, REVEL 0.21, ESM-1b 0.00
Public SLC26A2 analysis runs
- SLC26A2 analysis run — SLC26A2 (1,218 variants) — completed 2026-10-09