ATP7B (Copper-transporting ATPase 2) variants and mutations
ATP7B (also known as Copper-transporting ATPase 2) is a human protein-coding gene encoding a copper-transporting ATPase 2 protein. A copper-transporting ATPase that moves excess copper out of cells and helps deliver it from liver cells into bile. Its trafficking between intracellular membranes is central to copper homeostasis, and ATP7B dysfunction causes Wilson disease. This analysis covers 2,584 ATP7B variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes Wilson disease, genetic disorder, and Dystonia. Example ATP7B variants include M1I, E3D, and Q4E.
Variant analysis overview
- Gene: ATP7B
- Protein: Copper-transporting ATPase 2
- UniProt accession: P35670
- Organism: Homo sapiens
- Variants analyzed: 2584
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 2,329 unspecified-consequence records; 121 synonymous variants; 26 frameshift variants; 99 missense variants; 4 in-frame deletions; 3 stop-gained variants; 1 substitution
- Prediction scores: 2,476 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Wilson disease, genetic disorder, Dystonia, spastic ataxia, hearing loss, autosomal recessive, developmental and epileptic encephalopathy 93, genetic developmental and epileptic encephalopathy, intellectual disability, Wolff type, Epileptic encephalopathy, Abruptio Placentae, frozen shoulder, Hand tremor.
Protein structure and variant hotspots
- Protein features: 8 transmembrane segments; 6 domains; 14 binding sites; 4 post-translational modification sites.
- Structural context: 916 variants have structural context.
- PTM context: 6 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 ATP7B variants
Examples include M1I, E3D, Q4E, Q4H, Q4P, Q4R, E5*, E5K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs750530407, ClinGen CA6989721, ClinVar RCV000668127, ESM-1b 0.74, AlphaMissense 0.26, Uncertain significance, Wilson disease
- E3D (p.Glu3Asp), rs587783322, ClinGen CA388047711, ClinVar RCV002741833, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Wilson disease
- Q4E (p.Gln4Glu), rs1213833059, ClinGen CA388047706, ClinVar RCV002691258, gnomAD rs1213833059, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Wilson disease
- Q4H (p.Gln4His), TOPMed rs1316450845, gnomAD rs1316450845, REVEL 0.24, ESM-1b 0.00
- Q4P (p.Gln4Pro), rs781780227, ClinGen CA388047703, ClinVar RCV001264581, ClinVar RCV002542842, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Wilson disease; not specified
- Q4R (p.Gln4Arg), ExAC rs781780227, gnomAD rs781780227, REVEL 0.27, ESM-1b 0.00, Uncertain significance
- E5* (p.Glu5Ter), NCI-TCGA Cosmic COSV5443, NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, Variant assessed as somatic; high impact.
- E5K (p.Glu5Lys), rs757341859, ClinGen CA388047695, ClinVar RCV003026279, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Wilson disease
- E5Q (p.Glu5Gln), rs757341859, ClinGen CA6989719, NCI-TCGA Cosmic COSV5443, cosmic curated COSV54434, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Wilson disease
- Q7* (p.Gln7Ter), rs1392407744, ClinGen CA388047670, ClinVar RCV004015019, TOPMed rs1392407744, CADD 35.00, Uncertain significance
- Q7H (p.Gln7His), Ensembl rs768852127, REVEL 0.22, ESM-1b 0.00
- Q7R (p.Gln7Arg), rs764340318, ClinGen CA6989717, ClinVar RCV001920007, ExAC rs764340318, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not specified; Wilson disease
- I8N (p.Ile8Asn), rs1246224304, ClinGen CA388047653, ClinVar RCV004016743, TOPMed rs1246224304, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Wilson disease
- I8T (p.Ile8Thr), TOPMed rs1246224304, gnomAD rs1246224304, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- I8V (p.Ile8Val), rs1322672752, ClinGen CA388047656, ClinVar RCV002770715, TOPMed rs1322672752, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Wilson disease
- T9I (p.Thr9Ile), rs1954025092, ClinGen CA388047639, ClinVar RCV003100179, TOPMed rs1954025092, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Wilson disease
- T9R (p.Thr9Arg), NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R11G (p.Arg11Gly), Ensembl rs936715711, REVEL 0.30, ESM-1b 0.00
- R11S (p.Arg11Ser), rs753613009, ClinGen CA6989715, ClinVar RCV003065747, ExAC rs753613009, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Wilson disease
- R11T (p.Arg11Thr), gnomAD rs1397409149, REVEL 0.29, ESM-1b 0.00
- E12* (p.Glu12Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E12Q (p.Glu12Gln), TOPMed rs1382531592, gnomAD rs1382531592, REVEL 0.29, ESM-1b 0.00
- E12V (p.Glu12Val), rs374944498, ClinGen CA6989713, ClinVar RCV001280026, ESP rs374944498, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Wilson disease
- G13E (p.Gly13Glu), rs371758114, ClinGen CA6989712, ClinVar RCV003393323, ESP rs371758114, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided; Wilson disease
- A14D (p.Ala14Asp), rs587783319, ClinGen CA171326, ClinVar RCV000145283, UniProt VAR 023010, ESM-1b 0.00, AlphaMissense 0.10, Benign, not specified
- A14P (p.Ala14Pro), rs2547323808, ClinGen CA2580087638, ClinVar RCV002857738, Pathogenic
- A14T (p.Ala14Thr), rs773119230, ClinGen CA6989711, ClinVar RCV002740587, ExAC rs773119230, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Wilson disease
- S15R (p.Ser15Arg), ExAC rs761353425, TOPMed rs761353425, gnomAD rs761353425, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Wilson disease; not provided
- R16G (p.Arg16Gly), rs1593892536, ClinGen CA388047573, ClinVar RCV002760290, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Wilson disease
- R16Q (p.Arg16Gln), TOPMed rs1424030614, REVEL 0.27, ESM-1b 0.00
- K17I (p.Lys17Ile), TOPMed rs1193792042, gnomAD rs1193792042, REVEL 0.35, ESM-1b 0.00
- K17N (p.Lys17Asn), TOPMed rs1162535023, REVEL 0.21, ESM-1b 0.00
- I18=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- I18V (p.Ile18Val), rs2547826576, ClinGen CA388045435, ClinVar RCV004418804, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Inborn genetic diseases
- S20A (p.Ser20Ala), rs1233056586, ClinGen CA388045420, ClinVar RCV004008028, gnomAD rs1233056586, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Wilson disease
- S20F (p.Ser20Phe), NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, ESM-1b 0.47, AlphaMissense 0.14, Variant assessed as somatic; moderate impact.
- K21M (p.Lys21Met), rs199514391, ClinGen CA6989623, ClinVar RCV002995715, ClinVar RCV004593117, REVEL 0.38, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases; Wilson disease
- K21N (p.Lys21Asn), ExAC rs775666269, TOPMed rs775666269, gnomAD rs775666269, REVEL 0.34, ESM-1b 0.00
- K21R (p.Lys21Arg), 1000Genomes rs199514391, ExAC rs199514391, TOPMed rs199514391, gnomAD rs199514391, REVEL 0.18, ESM-1b 0.00, Uncertain significance
- T26A (p.Thr26Ala), rs1334967662, ClinGen CA388045383, ClinVar RCV003068422, TOPMed rs1334967662, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Wilson disease
- T26I (p.Thr26Ile), rs1360917706, ClinGen CA388045380, ClinVar RCV004014146, TOPMed rs1360917706, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Wilson disease
- R27C (p.Arg27Cys), cosmic curated COSV54438, ExAC rs769852412, TOPMed rs769852412, gnomAD rs769852412, REVEL 0.27, ESM-1b 0.00, Conflicting interpretations, Wilson disease
- R27H (p.Arg27His), rs371345946, ClinGen CA6989619, cosmic curated COSV54438, ClinVar RCV001111264, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided; Wilson disease
- R27L (p.Arg27Leu), ESP rs371345946, ExAC rs371345946, TOPMed rs371345946, gnomAD rs371345946, REVEL 0.40, ESM-1b 0.00, Uncertain significance
- W29* (p.Trp29Ter), rs577406734, ClinGen CA6989618, ClinVar RCV001263832, ExAC rs577406734, CADD 37.00, Likely pathogenic
- W29S (p.Trp29Ser), ExAC rs577406734, TOPMed rs577406734, gnomAD rs577406734, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Wilson disease
- E30K (p.Glu30Lys), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- P31A (p.Pro31Ala), ExAC rs771981995, gnomAD rs771981995, REVEL 0.17, ESM-1b 0.00
- P31L (p.Pro31Leu), gnomAD rs1373365533, REVEL 0.20, ESM-1b 0.00, Uncertain significance, ATP7B-related disorder
- A32T (p.Ala32Thr), ExAC rs748005861, gnomAD rs748005861, REVEL 0.15, ESM-1b 0.00
- M33I (p.Met33Ile), rs2547826124, ClinGen CA388045336, ClinVar RCV004010173, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Wilson disease
- M33R (p.Met33Arg), rs184868522, ClinGen CA388045339, ClinVar RCV002616520, ClinVar RCV004725553, REVEL 0.71, ESM-1b 0.00, Uncertain significance, not provided; Wilson disease
- M33T (p.Met33Thr), rs184868522, ClinGen CA241265, cosmic curated COSV10609, ClinVar RCV000029385, REVEL 0.60, ESM-1b 0.00, Uncertain significance, ATP7B-related disorder; Inborn genetic diseases; not specified
- M33V (p.Met33Val), TOPMed rs1952042768, gnomAD rs1952042768, REVEL 0.55, ESM-1b 0.00
- K35* (p.Lys35Ter), rs1057516516, ClinGen CA16041683, ClinVar RCV000412018, gnomAD rs1057516516, CADD 35.00, Likely pathogenic
- K35E (p.Lys35Glu), gnomAD rs1057516516, REVEL 0.28, ESM-1b 0.00, Likely pathogenic
- S36C (p.Ser36Cys), rs754996019, ClinGen CA6989615, ClinVar RCV002612228, ClinVar RCV003395614, REVEL 0.49, ESM-1b 0.00, Uncertain significance, ATP7B-related disorder; Wilson disease
- S36T (p.Ser36Thr), rs2547826027, ClinGen CA388045317, ClinVar RCV002944127, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Wilson disease
- F37L (p.Phe37Leu), rs748698125, ClinGen CA6989614, ClinVar RCV001913996, ExAC rs748698125, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Wilson disease
- A38D (p.Ala38Asp), rs935963471, ClinGen CA250067975, ClinVar RCV001323991, TOPMed rs935963471, REVEL 0.79, ESM-1b 0.00, Uncertain significance, Wilson disease
- A38T (p.Ala38Thr), ESP rs377230787, ExAC rs377230787, TOPMed rs377230787, gnomAD rs377230787, REVEL 0.83, ESM-1b 0.00, Uncertain significance, Wilson disease
- A38V (p.Ala38Val), rs935963471, ClinGen CA388045304, ClinVar RCV001280024, TOPMed rs935963471, ESM-1b 0.00, AlphaMissense 0.46, Uncertain significance, Wilson disease
- D40G (p.Asp40Gly), cosmic curated COSV10806, TOPMed rs1952041414, REVEL 0.84, ESM-1b 0.00
- N41D (p.Asn41Asp), 1000Genomes rs536682013, REVEL 0.59, ESM-1b 0.00
- N41K (p.Asn41Lys), TOPMed rs1483616454, gnomAD rs1483616454, REVEL 0.51, ESM-1b 0.00, Likely benign, in WD
- N41S (p.Asn41Ser), rs201738967, ClinGen CA271166, cosmic curated COSV54436, ClinVar RCV000145251, REVEL 0.57, ESM-1b 0.00, Pathogenic/Likely pathogenic, Inborn genetic diseases; not provided; Wilson disease
- G43S (p.Gly43Ser), rs1255787917, ClinGen CA388045274, ClinVar RCV001971548, gnomAD rs1255787917, REVEL 0.55, ESM-1b 0.00, Uncertain significance, Wilson disease
- Y44C (p.Tyr44Cys), rs1209726590, ClinGen CA388045264, ClinVar RCV001280023, ClinVar RCV002307719, REVEL 0.73, ESM-1b 0.00, Uncertain significance, not specified; Wilson disease
- Y44N (p.Tyr44Asn), rs1566605396, ClinGen CA388045267, ClinVar RCV000755710, UniProt VAR 076729, ESM-1b 0.00, AlphaMissense 0.25, Uncertain significance, Wilson disease
- E45K (p.Glu45Lys), rs777504965, ClinGen CA10639708, cosmic curated COSV99666, ClinVar RCV000359238, REVEL 0.65, ESM-1b 0.00, Uncertain significance, Wilson disease
- G46C (p.Gly46Cys), TOPMed rs756032027, gnomAD rs756032027, REVEL 0.50, ESM-1b 0.23
- G46R (p.Gly46Arg), TOPMed rs756032027, gnomAD rs756032027, REVEL 0.48, ESM-1b 0.00
- G47D (p.Gly47Asp), TOPMed rs1349308572, gnomAD rs1349308572, REVEL 0.16, ESM-1b 0.00
- G47S (p.Gly47Ser), ExAC rs767212439, gnomAD rs767212439, ESM-1b 0.00, AlphaMissense 0.06
- D49N (p.Asp49Asn), ExAC rs757592124, gnomAD rs757592124, REVEL 0.29, ESM-1b 0.00
- G52V (p.Gly52Val), TOPMed rs1353356443, gnomAD rs1353356443, REVEL 0.15, ESM-1b 0.00
- P53A (p.Pro53Ala), ExAC rs751956663, gnomAD rs751956663, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- P53L (p.Pro53Leu), ExAC rs764539745, TOPMed rs764539745, gnomAD rs764539745, REVEL 0.15, ESM-1b 0.00
- P53R (p.Pro53Arg), ExAC rs764539745, TOPMed rs764539745, gnomAD rs764539745, REVEL 0.23, ESM-1b 0.00
- P53S (p.Pro53Ser), rs751956663, ClinGen CA6989609, ClinVar RCV002036246, ExAC rs751956663, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Wilson disease
- S54C (p.Ser54Cys), rs2547825581, ClinGen CA388045198, ClinVar RCV002826502, ESM-1b 0.13, AlphaMissense 0.07, Uncertain significance, Inborn genetic diseases
- S55F (p.Ser55Phe), rs574071838, ClinGen CA6989607, ClinVar RCV004008244, 1000Genomes rs574071838, REVEL 0.36, ESM-1b 0.78, Uncertain significance, Wilson disease
- Q56* (p.Gln56Ter), gnomAD rs1336373356
- Q56E (p.Gln56Glu), gnomAD rs1336373356, REVEL 0.15, ESM-1b 0.00
- Q56R (p.Gln56Arg), gnomAD rs1399067288, REVEL 0.15, ESM-1b 0.00
- V57G (p.Val57Gly), rs755267357, ClinGen CA6989606, ClinVar RCV002308133, Likely pathogenic
- V57M (p.Val57Met), rs1008737431, ClinGen CA250067915, ClinVar RCV002834585, Ensembl rs1008737431, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Wilson disease
- A58T (p.Ala58Thr), rs1427888614, TOPMed rs1427888614, gnomAD rs1427888614, REVEL 0.16, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A58V (p.Ala58Val), Ensembl rs1486854200, REVEL 0.22, ESM-1b 0.00
- T59I (p.Thr59Ile), rs768112104, ClinGen CA6989604, ClinVar RCV003084261, ClinVar RCV003481391, REVEL 0.38, ESM-1b 0.00, Uncertain significance, not provided; Wilson disease
- T59N (p.Thr59Asn), ExAC rs768112104, TOPMed rs768112104, gnomAD rs768112104, REVEL 0.28, ESM-1b 0.78, Uncertain significance
- T59S (p.Thr59Ser), Ensembl rs1952037527, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Wilson disease
- T61I (p.Thr61Ile), Ensembl rs886235620, REVEL 0.23, ESM-1b 0.00
- R63M (p.Arg63Met), ExAC rs776972937, gnomAD rs776972937, ESM-1b 0.61, AlphaMissense 0.12
- R63S (p.Arg63Ser), TOPMed rs1238894954, gnomAD rs1238894954, REVEL 0.16, ESM-1b 0.00
- M67V (p.Met67Val), rs2547825222, ClinGen CA388045030, ClinVar RCV003324375, ClinVar RCV005012871, REVEL 0.77, ESM-1b 1.00, Uncertain significance, Wilson disease; not specified
- T68S (p.Thr68Ser), rs2547825175, ClinGen CA388044998, ClinVar RCV003311509, ESM-1b 0.17, AlphaMissense 0.14, Uncertain significance, Inborn genetic diseases
- C69F (p.Cys69Phe), rs2140111993, ClinGen CA388044982, ClinVar RCV002814464, ESM-1b 1.00, AlphaMissense 0.25, Uncertain significance, Wilson disease
- C69S (p.Cys69Ser), Ensembl rs2140111993, ESM-1b 1.00, AlphaMissense 0.25
- Q70* (p.Gln70Ter), rs2547825108, ClinGen CA388044970, ClinVar RCV002424022, ClinVar RCV003464547, Pathogenic
- Q70H (p.Gln70His), rs2547825080, ClinGen CA2580087776, ClinVar RCV002635194, Pathogenic
- Q70R (p.Gln70Arg), gnomAD rs1213175906, REVEL 0.66, ESM-1b 0.00
- S71L (p.Ser71Leu), Ensembl rs371286388, ESM-1b 1.00, AlphaMissense 0.12
- C72R (p.Cys72Arg), TOPMed rs1333511931, gnomAD rs1333511931, REVEL 0.89, ESM-1b 1.00
- C72Y (p.Cys72Tyr), rs1952035759, ClinGen CA388044936, ClinVar RCV002667416, Ensembl rs1952035759, ESM-1b 1.00, AlphaMissense 0.59, Uncertain significance, Wilson disease
- V73A (p.Val73Ala), gnomAD rs1411080052, REVEL 0.64, ESM-1b 0.00
- V73E (p.Val73Glu), rs2547824925, ClinGen CA2580614742, ClinVar RCV002308008, Likely pathogenic
- V73M (p.Val73Met), Ensembl rs1952035621, REVEL 0.66, ESM-1b 1.00, Uncertain significance, Wilson disease
- K74* (p.Lys74Ter), rs1952035259, ClinGen CA388044911, ClinVar RCV001263831, Ensembl rs1952035259, Likely pathogenic
- K74M (p.Lys74Met), NCI-TCGA TCGA novel, ESM-1b 0.20, AlphaMissense 0.15, Variant assessed as somatic; moderate impact.
- K74N (p.Lys74Asn), rs587776496, ClinGen CA233216, ClinVar RCV000144490, gnomAD rs587776496, ESM-1b 0.00, AlphaMissense 0.20, not provided
- I76F (p.Ile76Phe), rs200642204, ClinGen CA388044874, ClinVar RCV004010156, ESP rs200642204, ESM-1b 1.00, AlphaMissense 0.08, Uncertain significance, Wilson disease
- I76T (p.Ile76Thr), rs747911411, ClinGen CA6989600, ClinVar RCV001301742, ClinVar RCV005437060, REVEL 0.85, ESM-1b 1.00, Uncertain significance, not specified; Wilson disease
- I76V (p.Ile76Val), rs200642204, ClinGen CA6989601, ClinVar RCV000757023, ClinVar RCV001034284, REVEL 0.39, ESM-1b 1.00, Conflicting interpretations, Inborn genetic diseases; not specified; not provided
- E77* (p.Glu77Ter), rs1952034577, ClinGen CA388044858, ClinVar RCV001263830, Ensembl rs1952034577, Likely pathogenic
- D78E (p.Asp78Glu), ExAC rs774309766, gnomAD rs774309766, ESM-1b 0.00, AlphaMissense 0.10
- D78G (p.Asp78Gly), Ensembl rs2140110948, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Wilson disease
- R79K (p.Arg79Lys), rs375470066, ClinGen CA250067779, ClinVar RCV002470334, ESP rs375470066, REVEL 0.23, ESM-1b 0.00, Conflicting interpretations, Wilson disease
- R79S (p.Arg79Ser), 1000Genomes rs554234394, ExAC rs554234394, TOPMed rs554234394, gnomAD rs554234394, REVEL 0.30, ESM-1b 0.00, Likely benign
- S81F (p.Ser81Phe), NCI-TCGA Cosmic COSV5443, cosmic curated COSV54439, gnomAD rs1952033915, REVEL 0.48, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S81T (p.Ser81Thr), rs1952034021, ClinGen CA388044799, ClinVar RCV001238407, Ensembl rs1952034021, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Wilson disease
- N82D (p.Asn82Asp), ExAC rs749251753, gnomAD rs749251753, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Wilson disease
- N82S (p.Asn82Ser), rs1555296815, ClinGen CA388044777, ClinVar RCV000594979, ClinVar RCV002476335, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided; Wilson disease
- L83M (p.Leu83Met), ExAC rs779919865, gnomAD rs779919865, REVEL 0.32, ESM-1b 0.00
- G85A (p.Gly85Ala), rs786204643, ClinGen CA388044728, ClinVar RCV003119308, REVEL 0.80, ESM-1b 1.00, Conflicting interpretations, Wilson disease
- G85D (p.Gly85Asp), rs786204643, ClinGen CA388044726, ClinVar RCV003990607, ClinVar RCV004674011, REVEL 0.85, ESM-1b 1.00, Conflicting interpretations, Wilson disease
- G85S (p.Gly85Ser), NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, TOPMed rs1952033474, gnomAD rs1952033474, REVEL 0.83, ESM-1b 1.00, Likely pathogenic, Wilson disease
- G85V (p.Gly85Val), rs786204643, ClinGen CA274300, ClinVar RCV000169428, UniProt VAR 000703, REVEL 0.91, ESM-1b 1.00, Pathogenic/Likely pathogenic, Wilson disease
- I86V (p.Ile86Val), gnomAD rs1167152438, REVEL 0.27, ESM-1b 0.00
- I87F (p.Ile87Phe), NCI-TCGA Cosmic COSV5443, cosmic curated COSV54436, ESM-1b 0.00, AlphaMissense 0.09, Variant assessed as somatic; moderate impact.
- I87V (p.Ile87Val), gnomAD rs1321226935, REVEL 0.12, ESM-1b 0.00
- S88G (p.Ser88Gly), rs755634625, ClinGen CA6989595, ClinVar RCV002632824, ClinVar RCV003481401, REVEL 0.37, ESM-1b 0.62, Uncertain significance, not provided; Wilson disease
- S88I (p.Ser88Ile), Ensembl rs2140109311, ESM-1b 1.00, AlphaMissense 0.17
- S88T (p.Ser88Thr), Ensembl rs2140109311, REVEL 0.41, ESM-1b 0.00
- M89I (p.Met89Ile), gnomAD rs1164807938, REVEL 0.26, ESM-1b 0.00
- M89L (p.Met89Leu), rs372516400, ESP rs372516400, ExAC rs372516400, TOPMed rs372516400, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Wilson disease
- M89V (p.Met89Val), rs372516400, ClinGen CA6989593, ClinVar RCV001247126, ESP rs372516400, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Wilson disease
- K90E (p.Lys90Glu), ESP rs368013962, TOPMed rs368013962, gnomAD rs368013962, ESM-1b 0.89, AlphaMissense 0.09
- L93R (p.Leu93Arg), rs2547824301, ClinGen CA388044665, ClinVar RCV004014557, REVEL 0.84, ESM-1b 1.00, Uncertain significance, Wilson disease
- E94G (p.Glu94Gly), Ensembl rs1255028771, REVEL 0.70, ESM-1b 1.00
- E94K (p.Glu94Lys), rs2547824286, ClinGen CA388044664, ClinVar RCV004012918, ESM-1b 0.95, AlphaMissense 0.12, Uncertain significance, Wilson disease
- Q95* (p.Gln95Ter), rs756929892, ClinGen CA6989591, ClinVar RCV001001014, ExAC rs756929892, CADD 35.00, Pathogenic
- Q95E (p.Gln95Glu), ExAC rs756929892, TOPMed rs756929892, gnomAD rs756929892, ESM-1b 0.00, AlphaMissense 0.06, Pathogenic
- Q95K (p.Gln95Lys), ExAC rs756929892, TOPMed rs756929892, gnomAD rs756929892, REVEL 0.21, ESM-1b 0.00, Pathogenic
- G96D (p.Gly96Asp), rs1429553821, NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, UniProt VAR 000704, REVEL 0.38, ESM-1b 0.80, Uncertain significance, Wilson disease
- G96S (p.Gly96Ser), Ensembl rs2140108073, ESM-1b 0.00, AlphaMissense 0.08
- S97G (p.Ser97Gly), gnomAD rs1952031733, REVEL 0.36, ESM-1b 1.00
- S97R (p.Ser97Arg), Ensembl rs1593791806, REVEL 0.32, ESM-1b 0.08
- A98T (p.Ala98Thr), ExAC rs751868519, REVEL 0.58, ESM-1b 1.00
- V100M (p.Val100Met), gnomAD rs1952031151, REVEL 0.57, ESM-1b 1.00
- Y102* (p.Tyr102Ter), rs1342474321, ClinGen CA388044520, ClinVar RCV003464951, TOPMed rs1342474321, Likely pathogenic
- V103M (p.Val103Met), rs778117355, ClinGen CA6989589, ClinVar RCV004013989, ExAC rs778117355, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Wilson disease
- P104L (p.Pro104Leu), rs1252338037, NCI-TCGA Cosmic COSV5443, cosmic curated COSV54437, gnomAD rs1252338037, REVEL 0.51, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S105* (p.Ser105Ter), rs753236073, ClinGen CA274484, ClinVar RCV000169629, ClinVar RCV000293037, CADD 34.00, Pathogenic
- S105L (p.Ser105Leu), rs753236073, ClinGen CA6989588, ClinVar RCV003074493, ExAC rs753236073, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Wilson disease
- S105T (p.Ser105Thr), rs2547823934, ClinGen CA388044482, ClinVar RCV003610005, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Wilson disease
- V106D (p.Val106Asp), TOPMed rs1451328096, ESM-1b 1.00, AlphaMissense 0.16
- V106F (p.Val106Phe), NCI-TCGA TCGA novel, ESM-1b 0.78, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- V106I (p.Val106Ile), rs759630649, ClinGen CA6989586, ClinVar RCV004015821, ExAC rs759630649, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Wilson disease
- V107A (p.Val107Ala), NCI-TCGA TCGA novel, REVEL 0.32, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- V107L (p.Val107Leu), ExAC rs754003539, TOPMed rs754003539, gnomAD rs754003539, REVEL 0.18, ESM-1b 0.00
- C108R (p.Cys108Arg), rs1566603189, ClinGen CA388044443, ClinVar RCV000755715, UniProt VAR 076730, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, Wilson disease
- C108Y (p.Cys108Tyr), NCI-TCGA TCGA novel, REVEL 0.24, ESM-1b 0.16, Uncertain significance, in WD
- Q110R (p.Gln110Arg), NCI-TCGA TCGA novel, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- Q111* (p.Gln111Ter), rs774221179, ClinGen CA274096, ClinVar RCV000169259, ExAC rs774221179, CADD 34.00, Pathogenic
- V112F (p.Val112Phe), rs2547823720, ClinGen CA388044374, ClinVar RCV002304306, REVEL 0.55, ESM-1b 1.00, Uncertain significance, Wilson disease
- H114R (p.His114Arg), TOPMed rs1005310173, gnomAD rs1005310173, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not provided
- I116T (p.Ile116Thr), rs199773340, ClinGen CA6989581, ClinVar RCV000755833, ClinVar RCV001239682, REVEL 0.73, ESM-1b 1.00, Conflicting interpretations, not provided; Inborn genetic diseases; Wilson disease
- I116V (p.Ile116Val), ExAC rs768491585, gnomAD rs768491585, REVEL 0.29, ESM-1b 0.00
- G117R (p.Gly117Arg), NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, ESM-1b 0.00, AlphaMissense 0.09, Variant assessed as somatic; moderate impact.
- G117V (p.Gly117Val), NCI-TCGA TCGA novel, REVEL 0.25, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D118G (p.Asp118Gly), rs1352002305, ClinGen CA388044280, NCI-TCGA Cosmic COSV9966, cosmic curated COSV99666, REVEL 0.50, ESM-1b 0.84, Uncertain significance, Wilson disease
- D118N (p.Asp118Asn), rs769655497, ClinGen CA6989579, ClinVar RCV000507116, ClinVar RCV000945359, REVEL 0.56, ESM-1b 0.21, Conflicting interpretations, not provided; Wilson disease; not specified
- D118Y (p.Asp118Tyr), ExAC rs769655497, TOPMed rs769655497, gnomAD rs769655497, REVEL 0.73, ESM-1b 1.00, Uncertain significance
- M119L (p.Met119Leu), 1000Genomes rs534726612, ExAC rs534726612, gnomAD rs534726612, REVEL 0.51, ESM-1b 0.59, Uncertain significance, Wilson disease
- M119T (p.Met119Thr), Ensembl rs2140105193, ESM-1b 1.00, AlphaMissense 0.28
- G120C (p.Gly120Cys), NCI-TCGA Cosmic COSV5443, cosmic curated COSV54438, ESM-1b 1.00, AlphaMissense 0.47, Variant assessed as somatic; moderate impact.
- G120D (p.Gly120Asp), cosmic curated COSV99666, ExAC rs780697681, gnomAD rs780697681, REVEL 0.82, ESM-1b 1.00
- F121L (p.Phe121Leu), Ensembl rs2140104854, ESM-1b 1.00, AlphaMissense 0.95
- E122* (p.Glu122Ter), rs746662232, ClinVar RCV004576175, AlphaMissense 0.09, MetaLR 0.71, Likely pathogenic
Public ATP7B analysis runs
- ATP7B analysis run — ATP7B (2,584 variants) — completed 2026-05-15