SLC26A4 (Pendrin) variants and mutations
SLC26A4 (also known as Pendrin) is a human protein-coding gene encoding a pendrin protein. SLC26A4, known as pendrin, is an anion exchanger that transports chloride, iodide, and bicarbonate without directly using sodium. It supports ion balance in the inner ear and thyroid, and SLC26A4 variants cause Pendred syndrome and inherited deafness. This analysis covers 1,712 SLC26A4 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes Pendred syndrome, autosomal recessive nonsyndromic hearing loss 4, and hearing loss, autosomal recessive. Example SLC26A4 variants include M1?, M1I, and M1R.
Variant analysis overview
- Gene: SLC26A4
- Protein: Pendrin
- UniProt accession: O43511
- Organism: Homo sapiens
- Variants analyzed: 1712
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 1,438 unspecified-consequence records; 146 missense variants; 88 synonymous variants; 9 stop-gained variants; 4 in-frame deletions; 18 frameshift variants; 1 in-frame insertions; 1 splice-region variants; 6 substitution
- Prediction scores: 1,663 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Pendred syndrome, autosomal recessive nonsyndromic hearing loss 4, hearing loss, autosomal recessive, deafness, Rare genetic deafness, Hearing impairment, sensorineural hearing loss, Sensorineural hearing impairment, genetic disorder, ear malformation, goiter, Abnormality of the ear.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 1 domains.
- Structural context: 823 variants have structural context.
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, PharmGKB, MaveDB, LitVar.
Notable SLC26A4 variants
Examples include M1?, M1I, M1R, M1T, A2V, A2T, A2S, A2E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV55916
- M1I (p.Met1Ile), rs786204426, ClinGen CA273884, ClinVar RCV000169018, ClinVar RCV000579019, ESM-1b 1.00, AlphaMissense 0.44, Pathogenic, not provided; Pendred syndrome
- M1R (p.Met1Arg), rs111033302, ClinGen CA4432347, ClinVar RCV003037249, ClinVar RCV005406566, ESM-1b 1.00, AlphaMissense 0.29, Pathogenic/Likely pathogenic, not provided; Pendred syndrome
- M1T (p.Met1Thr), rs111033302, ClinGen CA261430, ClinVar RCV000036489, ClinVar RCV000797012, ESM-1b 1.00, AlphaMissense 0.43, Pathogenic, Rare genetic deafness; Monogenic hearing loss; SLC26A4-related disorder
- A2V (p.Ala2Val), gnomAD rs1333788556, REVEL 0.26, ESM-1b 0.01
- A2T (p.Ala2Thr), gnomAD 7-107661645-G-A, REVEL 0.27, ESM-1b 0.00
- A2S (p.Ala2Ser), gnomAD 7-107661645-G-T, REVEL 0.32, ESM-1b 0.00
- A2E (p.Ala2Glu), gnomAD 7-107661646-C-A, REVEL 0.29, ESM-1b 0.00
- A2A (p.Ala2Ala), gnomAD 7-107661647-A-G, CADD 11.20
- A3T (p.Ala3Thr), gnomAD rs1403933917, REVEL 0.32, ESM-1b 0.00
- A3S (p.Ala3Ser), gnomAD 7-107661648-G-T, REVEL 0.32, ESM-1b 0.00
- A3V (p.Ala3Val), gnomAD 7-107661649-C-T, REVEL 0.34, ESM-1b 0.00
- A3E (p.Ala3Glu), gnomAD 7-107661649-C-A, REVEL 0.28, ESM-1b 0.00
- A3A (p.Ala3Ala), rs1790554387, gnomAD 7-107661650-G-T, CADD 15.90
- P4L (p.Pro4Leu), gnomAD rs1437380751, REVEL 0.15, ESM-1b 0.00
- P4T (p.Pro4Thr), gnomAD 7-107661651-C-A, REVEL 0.26, ESM-1b 0.00
- P4S (p.Pro4Ser), gnomAD 7-107661651-C-T, REVEL 0.25, ESM-1b 0.00
- P4Q (p.Pro4Gln), gnomAD 7-107661652-C-A, REVEL 0.16, ESM-1b 0.00
- P4P (p.Pro4Pro), gnomAD 7-107661653-A-G, CADD 7.80
- G5C (p.Gly5Cys), cosmic curated COSV10721, REVEL 0.33, ESM-1b 0.54
- G5D (p.Gly5Asp), gnomAD 7-107661655-G-A, REVEL 0.33, ESM-1b 0.00
- G5V (p.Gly5Val), gnomAD 7-107661655-G-T, REVEL 0.31, ESM-1b 0.00
- G5G (p.Gly5Gly), rs7811324, gnomAD 7-107661656-C-A, CADD 15.80
- G6C (p.Gly6Cys), ExAC rs762069010, gnomAD rs762069010, REVEL 0.33, ESM-1b 0.52
- G6S (p.Gly6Ser), ExAC rs762069010, gnomAD rs762069010, REVEL 0.20, ESM-1b 0.00
- G6V (p.Gly6Val), rs111033423, ClinGen CA132679, ClinVar RCV000036459, ClinVar RCV000169379, REVEL 0.33, ESM-1b 0.00, Conflicting interpretations, not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4
- G6R (p.Gly6Arg), gnomAD 7-107661657-G-C, REVEL 0.24, ESM-1b 0.00
- G6D (p.Gly6Asp), gnomAD 7-107661658-G-A, REVEL 0.27, ESM-1b 0.00
- G6G (p.Gly6Gly), gnomAD 7-107661659-C-G, CADD 16.30
- R7K (p.Arg7Lys), 1000Genomes rs560264653, ExAC rs560264653, TOPMed rs560264653, gnomAD rs560264653, REVEL 0.17, ESM-1b 0.00
- R7S (p.Arg7Ser), TOPMed rs929239906, gnomAD rs929239906, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Pendred syndrome
- R7M (p.Arg7Met), gnomAD 7-107661661-G-T, REVEL 0.19, ESM-1b 0.00
- R7R (p.Arg7Arg), rs929239906, gnomAD 7-107661662-G-A, CADD 15.80
- S8L (p.Ser8Leu), cosmic curated COSV10721, Ensembl rs34942046, REVEL 0.17, ESM-1b 0.00
- S8P (p.Ser8Pro), Ensembl rs2129308693, REVEL 0.26, ESM-1b 0.00
- S8* (p.Ser8Ter), gnomAD 7-107661664-C-A, CADD 36.00
- S8S (p.Ser8Ser), gnomAD 7-107661665-G-C, CADD 18.30
- E9* (p.Glu9Ter), rs758648839, ClinGen CA368844722, ClinVar RCV001386210, ClinVar RCV004570960, CADD 37.00, Pathogenic
- E9G (p.Glu9Gly), NCI-TCGA TCGA novel, REVEL 0.29, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E9K (p.Glu9Lys), rs758648839, ClinGen CA4432350, ClinVar RCV003323238, ExAC rs758648839, REVEL 0.30, ESM-1b 0.00, Uncertain significance, not provided
- E9Q (p.Glu9Gln), ExAC rs758648839, gnomAD rs758648839, REVEL 0.31, ESM-1b 0.00, Pathogenic
- E9E (p.Glu9Glu), gnomAD 7-107661668-G-A, CADD 19.90
- E9D (p.Glu9Asp), gnomAD 7-107661668-G-T, REVEL 0.30, ESM-1b 0.00
- P10L (p.Pro10Leu), gnomAD rs1210122616, REVEL 0.23, ESM-1b 0.00
- P10S (p.Pro10Ser), 1000Genomes rs200102493, ESP rs200102493, ExAC rs200102493, TOPMed rs200102493, REVEL 0.28, ESM-1b 0.00, Uncertain significance
- P10T (p.Pro10Thr), 1000Genomes rs200102493, ESP rs200102493, ExAC rs200102493, TOPMed rs200102493, REVEL 0.52, ESM-1b 0.00, Conflicting interpretations, SLC26A4-related disorder; not provided; Autosomal recessive nonsyndromic hearing
- P10A (p.Pro10Ala), gnomAD 7-107661669-C-G, REVEL 0.29, ESM-1b 0.00
- P10Q (p.Pro10Gln), gnomAD 7-107661670-C-A, REVEL 0.35, ESM-1b 0.00
- P10P (p.Pro10Pro), rs1453609598, gnomAD 7-107661671-G-A, CADD 21.00
- P11Q (p.Pro11Gln), gnomAD rs1464881318, REVEL 0.29, ESM-1b 0.00
- P11S (p.Pro11Ser), gnomAD rs1249173005, REVEL 0.32, ESM-1b 0.00
- P11T (p.Pro11Thr), gnomAD rs1249173005, REVEL 0.22, ESM-1b 0.00
- p.Pro11 Pro14del, gnomAD 7-107661671-GCCGC, CADD 20.90
- P11L (p.Pro11Leu), gnomAD 7-107661673-C-T, REVEL 0.21, ESM-1b 0.00
- P11P (p.Pro11Pro), rs549105797, gnomAD 7-107661674-G-A, CADD 16.30
- Q12H (p.Gln12His), gnomAD rs1248775865, REVEL 0.25, ESM-1b 0.00
- Q12K (p.Gln12Lys), gnomAD 7-107661675-C-A, REVEL 0.21, ESM-1b 0.00
- Q12* (p.Gln12Ter), gnomAD 7-107661675-C-T, CADD 37.00
- Q12E (p.Gln12Glu), gnomAD 7-107661675-C-G, REVEL 0.30, ESM-1b 0.00
- Q12R (p.Gln12Arg), gnomAD 7-107661676-A-G, REVEL 0.25, ESM-1b 0.00
- Q12L (p.Gln12Leu), gnomAD 7-107661676-A-T, REVEL 0.26, ESM-1b 0.00
- Q12Q (p.Gln12Gln), gnomAD 7-107661677-G-A, CADD 19.70
- L13F (p.Leu13Phe), TOPMed rs866272794, REVEL 0.27, ESM-1b 0.00
- L13I (p.Leu13Ile), TOPMed rs866272794, REVEL 0.27, ESM-1b 0.00
- L13P (p.Leu13Pro), gnomAD 7-107661679-T-C, REVEL 0.33, ESM-1b 0.00
- L13L (p.Leu13Leu), rs1562817215, gnomAD 7-107661680-C-T, CADD 18.70
- P14R (p.Pro14Arg), TOPMed rs1478571726, gnomAD rs1478571726, REVEL 0.33, ESM-1b 0.00
- P14S (p.Pro14Ser), gnomAD 7-107661681-C-T, REVEL 0.25, ESM-1b 0.00
- P14T (p.Pro14Thr), gnomAD 7-107661681-C-A, REVEL 0.29, ESM-1b 0.00
- P14A (p.Pro14Ala), gnomAD 7-107661681-C-G, REVEL 0.27, ESM-1b 0.00
- P14H (p.Pro14His), gnomAD 7-107661682-C-A, REVEL 0.31, ESM-1b 0.00
- P14L (p.Pro14Leu), gnomAD 7-107661682-C-T, REVEL 0.30, ESM-1b 0.00
- P14P (p.Pro14Pro), rs755036570, gnomAD 7-107661683-C-G, CADD 12.40
- E15* (p.Glu15Ter), rs780980532, ClinGen CA4432353, ClinVar RCV003713242, ExAC rs780980532, CADD 39.00, Pathogenic
- E15K (p.Glu15Lys), NCI-TCGA Cosmic COSV9970, cosmic curated COSV99706, ExAC rs780980532, TOPMed rs780980532, REVEL 0.48, ESM-1b 0.00, Pathogenic
- E15S (p.Glu15Ser), rs1562817224, gnomAD 7-107661679-TC-T, CADD 24.20
- E15Q (p.Glu15Gln), gnomAD 7-107661684-G-C, REVEL 0.31, ESM-1b 0.00
- E15V (p.Glu15Val), gnomAD 7-107661685-A-T, REVEL 0.44, ESM-1b 0.00
- E15G (p.Glu15Gly), gnomAD 7-107661685-A-G, REVEL 0.44, ESM-1b 0.00
- E15E (p.Glu15Glu), rs748026717, gnomAD 7-107661686-G-A, CADD 18.00
- E15D (p.Glu15Asp), gnomAD 7-107661686-G-T, REVEL 0.27, ESM-1b 0.00
- Y16H (p.Tyr16His), gnomAD 7-107661687-T-C, REVEL 0.23, ESM-1b 0.00
- Y16C (p.Tyr16Cys), gnomAD 7-107661688-A-G, REVEL 0.27, ESM-1b 0.00
- Y16F (p.Tyr16Phe), gnomAD 7-107661688-A-T, REVEL 0.23, ESM-1b 0.00
- Y16* (p.Tyr16Ter), gnomAD 7-107661689-C-A, CADD 34.00
- Y16Y (p.Tyr16Tyr), rs1160066122, gnomAD 7-107661689-C-T, CADD 15.70
- S17G (p.Ser17Gly), gnomAD rs1389255221, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- S17I (p.Ser17Ile), gnomAD rs1381542421, REVEL 0.12, ESM-1b 0.33
- S17C (p.Ser17Cys), gnomAD 7-107661690-A-T, REVEL 0.29, ESM-1b 0.05
- S17T (p.Ser17Thr), gnomAD 7-107661691-G-C, REVEL 0.12, ESM-1b 0.00
- S17N (p.Ser17Asn), gnomAD 7-107661691-G-A, REVEL 0.18, ESM-1b 0.00
- S17R (p.Ser17Arg), gnomAD 7-107661692-C-A, REVEL 0.23, ESM-1b 0.00
- S17S (p.Ser17Ser), gnomAD 7-107661692-C-T, CADD 14.50
- C18* (p.Cys18Ter), gnomAD rs1332549030, CADD 36.00
- C18F (p.Cys18Phe), TOPMed rs1790557445, REVEL 0.29, ESM-1b 0.00
- C18R (p.Cys18Arg), TOPMed rs924930485, gnomAD rs924930485, REVEL 0.32, ESM-1b 0.00
- C18A (p.Cys18Ala), rs1316161028, gnomAD 7-107661692-CT-C, CADD 22.40
- C18Y (p.Cys18Tyr), gnomAD 7-107661694-G-A, REVEL 0.29, ESM-1b 0.00
- C18C (p.Cys18Cys), gnomAD 7-107661695-C-T, CADD 18.10
- S19A (p.Ser19Ala), rs1057516634, gnomAD 7-107661695-CA-C, CADD 25.80
- S19G (p.Ser19Gly), gnomAD 7-107661696-A-G, REVEL 0.31, ESM-1b 0.00
- S19C (p.Ser19Cys), gnomAD 7-107661696-A-T, REVEL 0.40, ESM-1b 0.31
- S19I (p.Ser19Ile), gnomAD 7-107661697-G-T, REVEL 0.37, ESM-1b 0.54
- S19R (p.Ser19Arg), gnomAD 7-107661698-C-A, REVEL 0.37, ESM-1b 0.00
- S19S (p.Ser19Ser), rs1409837386, gnomAD 7-107661698-C-T, CADD 16.30
- Y20H (p.Tyr20His), gnomAD 7-107661699-T-C, REVEL 0.89, ESM-1b 0.00
- Y20N (p.Tyr20Asn), gnomAD 7-107661699-T-A, REVEL 0.80, ESM-1b 1.00
- Y20F (p.Tyr20Phe), gnomAD 7-107661700-A-T, REVEL 0.73, ESM-1b 0.27
- Y20* (p.Tyr20Ter), gnomAD 7-107661701-C-A, CADD 33.00
- Y20Y (p.Tyr20Tyr), gnomAD 7-107661701-C-T, CADD 11.70
- M21I (p.Met21Ile), gnomAD rs1790557853, REVEL 0.26, ESM-1b 0.00
- M21V (p.Met21Val), rs375716219, ClinGen CA4432355, ClinVar RCV000607476, ClinVar RCV003558453, REVEL 0.19, ESM-1b 0.00, Conflicting interpretations, not specified; not provided
- M21N (p.Met21Asn), gnomAD 7-107661701-C-CA, CADD 24.20
- M21L (p.Met21Leu), gnomAD 7-107661702-A-T, REVEL 0.18, ESM-1b 0.00
- M21R (p.Met21Arg), gnomAD 7-107661703-T-G, REVEL 0.26, ESM-1b 0.07
- M21K (p.Met21Lys), gnomAD 7-107661703-T-A, REVEL 0.25, ESM-1b 0.27
- M21T (p.Met21Thr), gnomAD 7-107661703-T-C, REVEL 0.24, ESM-1b 0.00
- V22A (p.Val22Ala), rs1790557992, ClinGen CA368844929, ClinVar RCV001766990, TOPMed rs1790557992, REVEL 0.66, ESM-1b 0.26, Uncertain significance, not provided
- V22L (p.Val22Leu), 1000Genomes rs1282238542, gnomAD rs1282238542, REVEL 0.45, ESM-1b 1.00
- V22M (p.Val22Met), gnomAD 7-107661705-G-A, REVEL 0.62, ESM-1b 1.00
- V22E (p.Val22Glu), gnomAD 7-107661706-T-A, REVEL 0.69, ESM-1b 1.00
- V22V (p.Val22Val), gnomAD 7-107661707-G-A, CADD 17.50
- S23* (p.Ser23Ter), rs397516430, ClinGen CA261435, ClinVar RCV000036502, ClinVar RCV000169606, CADD 36.00, Pathogenic
- S23L (p.Ser23Leu), cosmic curated COSV99707, TOPMed rs397516430, gnomAD rs397516430, REVEL 0.34, ESM-1b 1.00, Pathogenic
- S23P (p.Ser23Pro), gnomAD 7-107661708-T-C, REVEL 0.57, ESM-1b 0.33
- S23S (p.Ser23Ser), gnomAD 7-107661710-G-C, CADD 15.60
- R24G (p.Arg24Gly), rs1268256689, UniProt VAR 021638, gnomAD rs1268256689, REVEL 0.92, ESM-1b 1.00, Likely pathogenic, Autosomal recessive nonsyndromic hearing loss 4
- R24L (p.Arg24Leu), rs1349370504, ClinGen CA368844952, ClinVar RCV001291241, ClinVar RCV005094349, REVEL 0.95, ESM-1b 1.00, Likely pathogenic, not provided
- R24Q (p.Arg24Gln), cosmic curated COSV99707, TOPMed rs1349370504, gnomAD rs1349370504, REVEL 0.91, ESM-1b 1.00, Likely pathogenic, in PDS/DFNB4
- R24W (p.Arg24Trp), gnomAD 7-107661711-C-T, REVEL 0.85, ESM-1b 1.00
- R24R (p.Arg24Arg), gnomAD 7-107661711-C-A, CADD 19.10
- P25L (p.Pro25Leu), ESP rs367907345, ExAC rs367907345, TOPMed rs367907345, gnomAD rs367907345, REVEL 0.71, ESM-1b 1.00, Uncertain significance
- P25R (p.Pro25Arg), rs367907345, ClinGen CA164207235, ClinVar RCV003068938, ESP rs367907345, REVEL 0.37, ESM-1b 1.00, Uncertain significance, not provided
- P25S (p.Pro25Ser), 1000Genomes rs551733961, ExAC rs551733961, TOPMed rs551733961, gnomAD rs551733961, REVEL 0.36, ESM-1b 0.76
- P25T (p.Pro25Thr), 1000Genomes rs551733961, ExAC rs551733961, TOPMed rs551733961, gnomAD rs551733961, REVEL 0.61, ESM-1b 1.00
- P25Q (p.Pro25Gln), gnomAD 7-107661715-C-A, REVEL 0.58, ESM-1b 1.00
- P25P (p.Pro25Pro), rs570668954, gnomAD 7-107661716-G-T, CADD 16.60
- V26A (p.Val26Ala), TOPMed rs1436644787, gnomAD rs1436644787, REVEL 0.42, ESM-1b 1.00
- V26I (p.Val26Ile), TOPMed rs1361348463, REVEL 0.22, ESM-1b 0.00
- V26G (p.Val26Gly), gnomAD 7-107661715-C-CG, CADD 27.10
- V26F (p.Val26Phe), gnomAD 7-107661717-G-T, REVEL 0.54, ESM-1b 1.00
- V26L (p.Val26Leu), gnomAD 7-107661717-G-C, REVEL 0.31, ESM-1b 0.00
- V26V (p.Val26Val), gnomAD 7-107661719-C-A, CADD 16.90
- Y27* (p.Tyr27Ter), gnomAD rs867562094, CADD 38.00, Likely benign
- Y27H (p.Tyr27His), rs2129308726, ClinGen CA368844981, ClinVar RCV001823277, Ensembl rs2129308726, REVEL 0.66, ESM-1b 1.00, Pathogenic, Autosomal recessive nonsyndromic hearing loss 4
- p.Tyr27 Ser28insAsn, gnomAD 7-107661720-T-TAC, CADD 22.00
- Y27C (p.Tyr27Cys), gnomAD 7-107661721-A-G, REVEL 0.77, ESM-1b 1.00
- Y27Y (p.Tyr27Tyr), rs867562094, gnomAD 7-107661722-C-T, CADD 22.20
- S28G (p.Ser28Gly), rs1554352234, ClinGen CA368844992, ClinVar RCV000515700, Ensembl rs1554352234, REVEL 0.40, ESM-1b 0.89, Pathogenic, Autosomal recessive nonsyndromic hearing loss 4
- S28R (p.Ser28Arg), rs539699299, ClinGen CA274233, ClinVar RCV000169378, ClinVar RCV000505875, REVEL 0.85, ESM-1b 1.00, Likely pathogenic, Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; not provided
- S28I (p.Ser28Ile), gnomAD 7-107661724-G-T, REVEL 0.68, ESM-1b 1.00
- S28N (p.Ser28Asn), gnomAD 7-107661724-G-A, REVEL 0.21, ESM-1b 0.00
- S28S (p.Ser28Ser), gnomAD 7-107661725-C-T, CADD 20.70
- E29* (p.Glu29Ter), rs111033205, ClinGen CA261442, ClinVar RCV000036510, ClinVar RCV000665064, CADD 37.00, Pathogenic, in PDS
- E29D (p.Glu29Asp), rs1554352240, ClinGen CA368845010, ClinVar RCV000670732, ClinVar RCV002462009, REVEL 0.60, ESM-1b 0.00, Likely pathogenic, Autosomal recessive nonsyndromic hearing loss 4
- E29G (p.Glu29Gly), rs1446406563, ClinGen CA368845005, ClinVar RCV000667499, ClinVar RCV002477489, REVEL 0.90, ESM-1b 1.00, Conflicting interpretations, not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- E29K (p.Glu29Lys), NCI-TCGA Cosmic COSV9970, cosmic curated COSV99707, REVEL 0.60, ESM-1b 1.00, Likely pathogenic, Autosomal recessive nonsyndromic hearing loss 4
- E29Q (p.Glu29Gln), rs111033205, ClinGen CA253315, ClinVar RCV000005111, ClinVar RCV000036509, REVEL 0.64, ESM-1b 0.00, Pathogenic/Likely pathogenic, Monogenic hearing loss; SLC26A4-related disorder; Rare genetic deafness
- E29E (p.Glu29Glu), gnomAD 7-107661728-G-A, CADD 19.90
- L30F (p.Leu30Phe), NCI-TCGA TCGA novel, REVEL 0.26, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- L30P (p.Leu30Pro), 1000Genomes rs546827860, TOPMed rs546827860, gnomAD rs546827860, REVEL 0.17, ESM-1b 0.00
- L30V (p.Leu30Val), gnomAD rs1183206000, REVEL 0.19, ESM-1b 0.00
- L30I (p.Leu30Ile), gnomAD 7-107661729-C-A, REVEL 0.19, ESM-1b 0.00
- L30L (p.Leu30Leu), gnomAD 7-107661731-C-A, CADD 20.20
- A31S (p.Ala31Ser), gnomAD rs1156674958, REVEL 0.16, ESM-1b 0.00
- A31T (p.Ala31Thr), cosmic curated COSV55918, REVEL 0.15, ESM-1b 0.00
- A31V (p.Ala31Val), gnomAD 7-107661733-C-T, REVEL 0.19, ESM-1b 0.00
- A31D (p.Ala31Asp), gnomAD 7-107661733-C-A, REVEL 0.23, ESM-1b 0.72
- A31G (p.Ala31Gly), gnomAD 7-107661733-C-G, REVEL 0.15, ESM-1b 0.00
- F32V (p.Phe32Val), Ensembl rs1584292891, REVEL 0.60, ESM-1b 1.00
- F32L (p.Phe32Leu), gnomAD 7-107661735-T-C, REVEL 0.41, ESM-1b 0.00
- F32F (p.Phe32Phe), gnomAD 7-107661737-C-T, CADD 19.10
- Q33H (p.Gln33His), gnomAD rs967911628, REVEL 0.23, ESM-1b 0.00, Likely benign
- Q33R (p.Gln33Arg), gnomAD rs1392879213, REVEL 0.20, ESM-1b 0.00
- Q33S (p.Gln33Ser), gnomAD 7-107661736-TC-T, CADD 24.80
- Q33* (p.Gln33Ter), gnomAD 7-107661738-C-T, CADD 37.00
- Q33K (p.Gln33Lys), gnomAD 7-107661738-C-A, REVEL 0.15, ESM-1b 0.00
- Q33L (p.Gln33Leu), gnomAD 7-107661739-A-T, REVEL 0.26, ESM-1b 0.00
- Q33Q (p.Gln33Gln), rs967911628, gnomAD 7-107661740-G-A, CADD 22.10
- Q34* (p.Gln34Ter), gnomAD rs999138325, CADD 37.00, Pathogenic
Public SLC26A4 analysis runs
- SLC26A4 analysis run — SLC26A4 (1,712 variants) — completed 2026-05-15