ATP6V0A4 (Q9HBG4) variants and mutations
ATP6V0A4 (also known as Q9HBG4) is a human protein-coding gene encoding a v-type proton ATPase 116 kDa subunit a 4 protein. A membrane subunit of the V-type proton pump in kidney cells that helps acidify urine. Variants can cause distal renal tubular acidosis, sometimes with hearing loss. This analysis covers 1,160 ATP6V0A4 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, autosomal recessive distal renal tubular acidosis, and hereditary disease. Example ATP6V0A4 variants include V2A, V2E, and V2G.
Variant analysis overview
- Gene: ATP6V0A4
- Protein: Q9HBG4
- UniProt accession: Q9HBG4
- Organism: Homo sapiens
- Variants analyzed: 1160
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,056 unspecified-consequence records; 1 stop retained variant; 2 stop lost; 76 synonymous variants; 82 missense variants; 14 frameshift variants; 3 splice-region variants; 4 in-frame deletions; 3 stop-gained variants
- Prediction scores: 1,111 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, autosomal recessive distal renal tubular acidosis, hereditary disease, distal renal tubular acidosis, sensorineural hearing loss disorder, hearing loss disorder, renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, presbycusis, ovarian neoplasm, ocular hypotension, ulcerative colitis, Pancreatic pseudocyst.
Protein structure and variant hotspots
- Protein features: 8 transmembrane segments.
- Structural context: 287 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to ATP6V0A4
Notable ATP6V0A4 variants
Examples include V2A, V2E, V2G, R6*, R6Q, S7N, S7R, E8*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- V2A (p.Val2Ala), rs10258719, ClinGen CA4505278, cosmic curated COSV59476, ClinVar RCV000245255, REVEL 0.21, ESM-1b 0.00, Benign, Bailey-Bloch congenital myopathy; not specified; Autosomal recessive distal rena
- V2E (p.Val2Glu), rs10258719, ClinGen CA369380207, ClinVar RCV001323520, ClinVar RCV005038075, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- V2G (p.Val2Gly), 1000Genomes rs10258719, ESP rs10258719, ExAC rs10258719, TOPMed rs10258719, REVEL 0.18, ESM-1b 0.00, Benign
- R6* (p.Arg6Ter), rs769417807, ClinGen CA4505275, NCI-TCGA Cosmic COSV5947, cosmic curated COSV59472, CADD 38.00, Pathogenic
- R6Q (p.Arg6Gln), rs147512254, ClinGen CA4505274, cosmic curated COSV59480, ClinVar RCV001164279, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; A
- S7N (p.Ser7Asn), gnomAD rs1378760129, REVEL 0.82, ESM-1b 1.00
- S7R (p.Ser7Arg), ExAC rs777850731, TOPMed rs777850731, gnomAD rs777850731, REVEL 0.82, ESM-1b 1.00, Likely benign
- E8* (p.Glu8Ter), cosmic curated COSV10518
- E8K (p.Glu8Lys), rs894665573, NCI-TCGA Cosmic COSV5947, cosmic curated COSV59474, TOPMed rs894665573, REVEL 0.89, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- E9D (p.Glu9Asp), TOPMed rs1178453845, gnomAD rs1178453845, REVEL 0.41, ESM-1b 0.23
- M10I (p.Met10Ile), gnomAD rs1807368046, REVEL 0.90, ESM-1b 1.00
- M10L (p.Met10Leu), TOPMed rs1055939841, gnomAD rs1055939841, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; I
- M10T (p.Met10Thr), ExAC rs758730888, TOPMed rs758730888, gnomAD rs758730888, REVEL 0.95, ESM-1b 1.00
- C11A (p.Cys11Ala), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, MetaLR 0.75, MetaSVM 0.54, Variant assessed as somatic; moderate impact.
- S13P (p.Ser13Pro), rs1807367509, ClinGen CA369380137, cosmic curated COSV59480, ClinVar RCV003666332, REVEL 0.54, ESM-1b 1.00, Uncertain significance, not provided
- S13T (p.Ser13Thr), TOPMed rs1807367509, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- L15P (p.Leu15Pro), gnomAD rs1374810796, REVEL 0.91, ESM-1b 1.00
- L15Q (p.Leu15Gln), gnomAD rs1374810796, REVEL 0.90, ESM-1b 1.00
- F16C (p.Phe16Cys), cosmic curated COSV59476, REVEL 0.87, ESM-1b 1.00
- F16I (p.Phe16Ile), 1000Genomes rs199577631, REVEL 0.34, ESM-1b 1.00
- Q18* (p.Gln18Ter), rs1384393001, ClinGen CA369380104, NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, CADD 40.00, Pathogenic
- V19M (p.Val19Met), cosmic curated COSV10811, TOPMed rs1159301747, gnomAD rs1159301747, REVEL 0.40, ESM-1b 0.00
- E20K (p.Glu20Lys), ExAC rs755114471, gnomAD rs755114471, REVEL 0.83, ESM-1b 1.00
- E20Q (p.Glu20Gln), ExAC rs755114471, gnomAD rs755114471, REVEL 0.82, ESM-1b 1.00
- A21G (p.Ala21Gly), ExAC rs754242050, gnomAD rs754242050, REVEL 0.67, ESM-1b 1.00
- A22T (p.Ala22Thr), rs1393351118, TOPMed rs1393351118, ESM-1b 1.00, AlphaMissense 0.37, Variant assessed as somatic; moderate impact.
- Y23* (p.Tyr23Ter), TOPMed rs1335174688, CADD 30.00
- Y23C (p.Tyr23Cys), ExAC rs766968071, TOPMed rs766968071, gnomAD rs766968071, REVEL 0.85, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; I
- Y23H (p.Tyr23His), gnomAD rs1433112818, REVEL 0.70, ESM-1b 0.78
- C25R (p.Cys25Arg), Ensembl rs938829479, ESM-1b 1.00, AlphaMissense 0.98
- V26A (p.Val26Ala), rs1444710096, ClinGen CA369379655, ClinVar RCV001919045, ClinVar RCV005031874, REVEL 0.78, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- E28Q (p.Glu28Gln), gnomAD rs1205264414, REVEL 0.72, ESM-1b 0.00
- L29F (p.Leu29Phe), ExAC rs767136907, gnomAD rs767136907, REVEL 0.88, ESM-1b 1.00, Uncertain significance
- L29I (p.Leu29Ile), ExAC rs767136907, gnomAD rs767136907, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- G30A (p.Gly30Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G30* (p.Gly30Ter), cosmic curated COSV59473
- G30E (p.Gly30Glu), TOPMed rs987993295, gnomAD rs987993295, REVEL 0.94, ESM-1b 1.00
- G30R (p.Gly30Arg), rs1233261241, NCI-TCGA Cosmic COSV5947, gnomAD rs1233261241, REVEL 0.95, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- E31G (p.Glu31Gly), NCI-TCGA Cosmic COSV5947, cosmic curated COSV59474, Ensembl rs1807362667, REVEL 0.91, ESM-1b 0.52, Variant assessed as somatic; moderate impact.
- E31K (p.Glu31Lys), ExAC rs768085481, TOPMed rs768085481, gnomAD rs768085481, REVEL 0.72, ESM-1b 0.00
- G33* (p.Gly33Ter), cosmic curated COSV10644
- G33E (p.Gly33Glu), ExAC rs745618366, TOPMed rs745618366, gnomAD rs745618366, REVEL 0.87, ESM-1b 1.00
- G33R (p.Gly33Arg), rs139370870, ClinGen CA4505256, cosmic curated COSV59475, ClinVar RCV001881715, REVEL 0.91, ESM-1b 1.00, Uncertain significance, not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h
- G33V (p.Gly33Val), ExAC rs745618366, TOPMed rs745618366, gnomAD rs745618366, REVEL 0.85, ESM-1b 1.00
- L34F (p.Leu34Phe), rs1173300423, ClinGen CA369379557, ClinVar RCV001981337, ClinVar RCV005031962, REVEL 0.65, ESM-1b 0.93, Uncertain significance, not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h
- V35F (p.Val35Phe), ExAC rs770882514, gnomAD rs770882514, REVEL 0.88, ESM-1b 1.00
- Q36L (p.Gln36Leu), ExAC rs779291979, gnomAD rs779291979, REVEL 0.92, ESM-1b 1.00
- F37L (p.Phe37Leu), Ensembl rs1426145119, ESM-1b 1.00, AlphaMissense 0.99
- D39N (p.Asp39Asn), cosmic curated COSV59481, REVEL 0.87, ESM-1b 1.00
- D39V (p.Asp39Val), TOPMed rs1257857936, gnomAD rs1257857936, REVEL 0.96, ESM-1b 1.00
- M42I (p.Met42Ile), TOPMed rs1186714141, gnomAD rs1186714141, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- M42V (p.Met42Val), Ensembl rs1807250552, REVEL 0.16, ESM-1b 0.00
- N43S (p.Asn43Ser), ExAC rs746859295, gnomAD rs746859295, REVEL 0.25, ESM-1b 0.00
- V44L (p.Val44Leu), cosmic curated COSV59475, ESM-1b 1.00, AlphaMissense 0.40
- S46I (p.Ser46Ile), Ensembl rs868407303, REVEL 0.54, ESM-1b 0.82
- F47L (p.Phe47Leu), gnomAD rs1437068237, REVEL 0.83, ESM-1b 1.00
- Q48H (p.Gln48His), TOPMed rs1807248659, ESM-1b 1.00, AlphaMissense 0.79
- K50* (p.Lys50Ter), ExAC rs768967518, gnomAD rs768967518, CADD 40.00, SIFT 0.01
- K50R (p.Lys50Arg), ExAC rs749309505, gnomAD rs749309505, REVEL 0.26, ESM-1b 0.13
- F51L (p.Phe51Leu), ExAC rs780135307, gnomAD rs780135307, REVEL 0.79, ESM-1b 1.00
- V52A (p.Val52Ala), cosmic curated COSV59477, REVEL 0.77, ESM-1b 1.00
- E54* (p.Glu54Ter), rs756176052, 1000Genomes rs756176052, ExAC rs756176052, gnomAD rs756176052, CADD 38.00, Variant assessed as somatic; high impact.
- E54V (p.Glu54Val), gnomAD rs1051958411, REVEL 0.92, ESM-1b 1.00
- V55A (p.Val55Ala), ExAC rs746304271, TOPMed rs746304271, gnomAD rs746304271, ESM-1b 1.00, AlphaMissense 0.88
- V55D (p.Val55Asp), ExAC rs746304271, TOPMed rs746304271, gnomAD rs746304271, ESM-1b 1.00, AlphaMissense 0.98
- V55F (p.Val55Phe), cosmic curated COSV10882, REVEL 0.91, ESM-1b 1.00
- V55I (p.Val55Ile), cosmic curated COSV10518, REVEL 0.54, ESM-1b 0.00
- R57S (p.Arg57Ser), Ensembl rs1563012304, REVEL 0.88, ESM-1b 1.00
- C58A (p.Cys58Ala), NCI-TCGA Cosmic COSV5947, cosmic curated COSV59475, REVEL 0.92, MetaLR 0.89, Variant assessed as somatic; moderate impact.
- C58Y (p.Cys58Tyr), ExAC rs781671070, TOPMed rs781671070, gnomAD rs781671070, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- E59A (p.Glu59Ala), ExAC rs751987249, gnomAD rs751987249, REVEL 0.77, ESM-1b 0.92
- E59V (p.Glu59Val), ExAC rs751987249, gnomAD rs751987249, REVEL 0.85, ESM-1b 1.00, Uncertain significance, not provided
- R63K (p.Arg63Lys), Ensembl rs1584939923, REVEL 0.49, ESM-1b 0.00
- I64M (p.Ile64Met), ExAC rs758117225, gnomAD rs758117225, REVEL 0.48, ESM-1b 0.27
- R66C (p.Arg66Cys), rs146911574, ClinGen CA4505220, ClinVar RCV003848754, ClinVar RCV005038574, REVEL 0.71, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- R66H (p.Arg66His), TOPMed rs1265979906, gnomAD rs1265979906, REVEL 0.79, ESM-1b 0.00
- E69G (p.Glu69Gly), Ensembl rs2117331845, REVEL 0.85, ESM-1b 0.23
- E69K (p.Glu69Lys), TOPMed rs1354681809, gnomAD rs1354681809, ESM-1b 0.02, AlphaMissense 0.09
- E69Q (p.Glu69Gln), TOPMed rs1354681809, gnomAD rs1354681809, REVEL 0.57, ESM-1b 0.00
- D70V (p.Asp70Val), cosmic curated COSV59479, REVEL 0.60, ESM-1b 0.00
- E71* (p.Glu71Ter), cosmic curated COSV10964, CADD 39.00
- E71D (p.Glu71Asp), cosmic curated COSV10738, ESM-1b 0.72, AlphaMissense 0.72
- E71K (p.Glu71Lys), cosmic curated COSV10644, gnomAD rs1232526730, REVEL 0.77, ESM-1b 1.00
- M72I (p.Met72Ile), cosmic curated COSV10518, ESM-1b 0.00, AlphaMissense 0.46
- Q73* (p.Gln73Ter), TOPMed rs1370746302, gnomAD rs1370746302, Likely pathogenic
- Q73K (p.Gln73Lys), TOPMed rs1370746302, gnomAD rs1370746302, REVEL 0.16, ESM-1b 0.00, Likely pathogenic
- Q73R (p.Gln73Arg), gnomAD rs1302537397, REVEL 0.12, ESM-1b 0.00
- N74H (p.Asn74His), cosmic curated COSV59478, ESM-1b 0.00, AlphaMissense 0.07
- N74I (p.Asn74Ile), cosmic curated COSV10964, ESM-1b 0.00, AlphaMissense 0.14
- E75* (p.Glu75Ter), cosmic curated COSV10590
- E75D (p.Glu75Asp), TOPMed rs1466415536, ESM-1b 0.00, AlphaMissense 0.09
- I76S (p.Ile76Ser), cosmic curated COSV59474, ESM-1b 0.00, AlphaMissense 0.13
- I76T (p.Ile76Thr), gnomAD rs1199544035, REVEL 0.38, ESM-1b 0.00
- V77A (p.Val77Ala), TOPMed rs1807222377, ESM-1b 0.00, AlphaMissense 0.06
- Q79* (p.Gln79Ter), cosmic curated COSV10811
- E82K (p.Glu82Lys), rs929483161, TOPMed rs929483161, REVEL 0.43, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E82Q (p.Glu82Gln), TOPMed rs929483161, REVEL 0.38, ESM-1b 0.00
- K83Q (p.Lys83Gln), cosmic curated COSV10002, ESM-1b 0.00, AlphaMissense 0.08
- S84G (p.Ser84Gly), ExAC rs764857690, TOPMed rs764857690, gnomAD rs764857690, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S84R (p.Ser84Arg), ExAC rs764857690, TOPMed rs764857690, gnomAD rs764857690, REVEL 0.12, ESM-1b 0.00
- T87N (p.Thr87Asn), 1000Genomes rs533406605, ExAC rs533406605, TOPMed rs533406605, gnomAD rs533406605, REVEL 0.22, ESM-1b 1.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- P88L (p.Pro88Leu), rs200954029, ClinGen CA4505188, NCI-TCGA Cosmic COSV5947, cosmic curated COSV59481, REVEL 0.70, ESM-1b 0.91, Uncertain significance, not provided
- P88Q (p.Pro88Gln), cosmic curated COSV59474, ESP rs200954029, ExAC rs200954029, TOPMed rs200954029, REVEL 0.74, ESM-1b 1.00, Uncertain significance
- P88R (p.Pro88Arg), rs200954029, ClinGen CA369378248, ClinVar RCV002805040, ESP rs200954029, REVEL 0.78, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- P88S (p.Pro88Ser), cosmic curated COSV59481, REVEL 0.78, ESM-1b 0.90
- R91Q (p.Arg91Gln), cosmic curated COSV10518, TOPMed rs942093055, gnomAD rs942093055, REVEL 0.69, ESM-1b 0.84
- R91W (p.Arg91Trp), rs564427621, NCI-TCGA Cosmic COSV5947, cosmic curated COSV59474, 1000Genomes rs564427621, REVEL 0.82, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- T95P (p.Thr95Pro), Ensembl rs1584939570, ESM-1b 0.00, AlphaMissense 0.12
- T95S (p.Thr95Ser), 1000Genomes rs551006652, ExAC rs551006652, gnomAD rs551006652, REVEL 0.10, ESM-1b 0.00
- E97D (p.Glu97Asp), Ensembl rs2117331630, REVEL 0.67, ESM-1b 1.00
- T98A (p.Thr98Ala), cosmic curated COSV11486, REVEL 0.19, ESM-1b 0.00
- T98I (p.Thr98Ile), TOPMed rs1394108506, gnomAD rs1394108506, REVEL 0.14, ESM-1b 0.00
- V99G (p.Val99Gly), ExAC rs772495349, gnomAD rs772495349, REVEL 0.17, ESM-1b 0.00
- V99L (p.Val99Leu), rs773766934, ClinGen CA4505161, ClinVar RCV002749933, ClinVar RCV005036637, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Renal tubular acidosis, distal, 3, with or without sens
- L100I (p.Leu100Ile), cosmic curated COSV59477, ESM-1b 0.91, AlphaMissense 0.23
- K102E (p.Lys102Glu), Ensembl rs890598515, REVEL 0.73, ESM-1b 0.74
- G105T (p.Gly105Thr), NCI-TCGA TCGA novel, MetaLR 0.54, MetaSVM 0.11, Variant assessed as somatic; moderate impact.
- G105A (p.Gly105Ala), ExAC rs779102605, TOPMed rs779102605, gnomAD rs779102605, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E106G (p.Glu106Gly), TOPMed rs1207000053, REVEL 0.71, ESM-1b 1.00
- L107V (p.Leu107Val), cosmic curated COSV10811, ESM-1b 0.60, AlphaMissense 0.18
- Q108R (p.Gln108Arg), gnomAD rs1189914823, REVEL 0.19, ESM-1b 0.00
- N111S (p.Asn111Ser), TOPMed rs1233844406, gnomAD rs1233844406, REVEL 0.35, ESM-1b 0.00
- Q112* (p.Gln112Ter), rs779869631, ClinGen CA4505156, ClinVar RCV000287838, ExAC rs779869631, CADD 36.00, Pathogenic
- Q112E (p.Gln112Glu), ExAC rs779869631, TOPMed rs779869631, gnomAD rs779869631, REVEL 0.16, ESM-1b 0.07, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- Q114E (p.Gln114Glu), TOPMed rs1179541056, gnomAD rs1179541056, REVEL 0.26, ESM-1b 0.46
- Q114H (p.Gln114His), Ensembl rs2117316841, ESM-1b 0.17, AlphaMissense 0.17
- Q114K (p.Gln114Lys), cosmic curated COSV10590, ESM-1b 0.01, AlphaMissense 0.13
- Q114R (p.Gln114Arg), TOPMed rs1431045681, ESM-1b 0.35, AlphaMissense 0.10, Uncertain significance, Inborn genetic diseases
- Q115* (p.Gln115Ter), cosmic curated COSV10738
- Q115E (p.Gln115Glu), rs1806903889, ClinGen CA369376853, ClinVar RCV004418720, Ensembl rs1806903889, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- Q115L (p.Gln115Leu), ESP rs373099295, ExAC rs373099295, TOPMed rs373099295, gnomAD rs373099295, REVEL 0.57, ESM-1b 0.00
- A116G (p.Ala116Gly), ExAC rs757190930, gnomAD rs757190930, REVEL 0.44, ESM-1b 0.00
- A116T (p.Ala116Thr), NCI-TCGA Cosmic COSV5947, cosmic curated COSV59473, Ensembl rs1806902660, REVEL 0.18, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A116C (p.Ala116Cys), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, MetaLR 0.75, MetaSVM 0.63, Variant assessed as somatic; moderate impact.
- K118Q (p.Lys118Gln), ESP rs140207554, ExAC rs140207554, TOPMed rs140207554, gnomAD rs140207554, REVEL 0.46, ESM-1b 0.00
- Q119L (p.Gln119Leu), cosmic curated COSV10002, REVEL 0.18, ESM-1b 0.22
- Q119R (p.Gln119Arg), gnomAD rs1563008576, REVEL 0.10, ESM-1b 0.00
- S120N (p.Ser120Asn), gnomAD rs1284386310, REVEL 0.16, ESM-1b 0.00
- L122P (p.Leu122Pro), cosmic curated COSV59473, ESM-1b 1.00, AlphaMissense 0.95
- L124R (p.Leu124Arg), TOPMed rs1806901129, ESM-1b 1.00, AlphaMissense 0.71
- L124V (p.Leu124Val), gnomAD rs1411998513, REVEL 0.73, ESM-1b 1.00
- T125A (p.Thr125Ala), cosmic curated COSV10738, ESM-1b 1.00, AlphaMissense 0.13
- E126K (p.Glu126Lys), cosmic curated COSV10590, ESM-1b 1.00, AlphaMissense 0.90
- Y129C (p.Tyr129Cys), gnomAD rs1164726585, REVEL 0.39, ESM-1b 0.00
- Y129H (p.Tyr129His), TOPMed rs1353689346, gnomAD rs1353689346, REVEL 0.17, ESM-1b 0.00
- L130V (p.Leu130Val), rs758193098, ExAC rs758193098, gnomAD rs758193098, ESM-1b 0.00, AlphaMissense 0.16, Variant assessed as somatic; moderate impact.
- K132Q (p.Lys132Gln), gnomAD rs1308241730, REVEL 0.36, ESM-1b 0.00
- K132R (p.Lys132Arg), Ensembl rs1584934929, ESM-1b 0.00, AlphaMissense 0.08
- T134I (p.Thr134Ile), ExAC rs754047220, TOPMed rs754047220, gnomAD rs754047220, REVEL 0.67, ESM-1b 1.00
- Q135H (p.Gln135His), ExAC rs760777799, TOPMed rs760777799, gnomAD rs760777799, REVEL 0.43, ESM-1b 0.50, Uncertain significance, Inborn genetic diseases
- F137L (p.Phe137Leu), gnomAD rs1806897651, REVEL 0.57, ESM-1b 1.00
- F137S (p.Phe137Ser), TOPMed rs1806897890, ESM-1b 1.00, AlphaMissense 0.92
- F137V (p.Phe137Val), Ensembl rs1806898286, ESM-1b 1.00, AlphaMissense 0.47
- F138L (p.Phe138Leu), Ensembl rs1806897483, ESM-1b 0.00, AlphaMissense 0.95
- E139K (p.Glu139Lys), cosmic curated COSV11486, ESM-1b 0.64, AlphaMissense 0.26
- E139Q (p.Glu139Gln), cosmic curated COSV59477, REVEL 0.31, ESM-1b 0.00
- T140M (p.Thr140Met), rs144802156, ClinGen CA4505129, cosmic curated COSV59476, ClinVar RCV000342844, REVEL 0.39, ESM-1b 0.00, Conflicting interpretations, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- E141K (p.Glu141Lys), rs867752659, Ensembl rs867752659, ESM-1b 1.00, AlphaMissense 0.29, Variant assessed as somatic; moderate impact.
- N143D (p.Asn143Asp), rs778873408, ClinGen CA4505127, ClinVar RCV001296721, ClinVar RCV005040138, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- N143I (p.Asn143Ile), cosmic curated COSV59473, REVEL 0.30, ESM-1b 0.00
- N143K (p.Asn143Lys), NCI-TCGA TCGA novel, TOPMed rs1806870605, REVEL 0.39, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- N143S (p.Asn143Ser), rs1806870820, ClinGen CA369376648, ClinVar RCV004418721, ClinVar RCV005040658, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Renal tubular acidosis, distal, 3, with or without sens
- A145T (p.Ala145Thr), ExAC rs767434417, gnomAD rs767434417, REVEL 0.11, ESM-1b 0.00
- D146N (p.Asp146Asn), Ensembl rs1806870007, REVEL 0.30, ESM-1b 0.00
- D147E (p.Asp147Glu), ExAC rs774988387, gnomAD rs774988387, REVEL 0.55, ESM-1b 0.00
- D147N (p.Asp147Asn), ExAC rs761968599, TOPMed rs761968599, gnomAD rs761968599, REVEL 0.34, ESM-1b 0.00
- F148L (p.Phe148Leu), ExAC rs764761203, gnomAD rs764761203, REVEL 0.37, ESM-1b 0.00
- T150I (p.Thr150Ile), TOPMed rs1326445525, REVEL 0.22, ESM-1b 0.00
- E151* (p.Glu151Ter), cosmic curated COSV59480
- E151K (p.Glu151Lys), Ensembl rs796159349, ESM-1b 0.24, AlphaMissense 0.25
- D152V (p.Asp152Val), ExAC rs763376702, TOPMed rs763376702, gnomAD rs763376702, REVEL 0.73, ESM-1b 1.00
- T153A (p.Thr153Ala), ExAC rs776043280, gnomAD rs776043280, REVEL 0.52, ESM-1b 0.00
- T153I (p.Thr153Ile), gnomAD rs1217064939, REVEL 0.44, ESM-1b 0.00
- S154P (p.Ser154Pro), Ensembl rs757211932, REVEL 0.53, ESM-1b 0.00
- G155D (p.Gly155Asp), TOPMed rs1482892962, REVEL 0.52, ESM-1b 0.00
- L156F (p.Leu156Phe), cosmic curated COSV59473, ESM-1b 0.00, AlphaMissense 0.47
- L156P (p.Leu156Pro), cosmic curated COSV10738, ESM-1b 0.72, AlphaMissense 0.77
- L157P (p.Leu157Pro), gnomAD rs1261966753, REVEL 0.75, ESM-1b 0.00
- E158D (p.Glu158Asp), ESP rs141041539, ExAC rs141041539, TOPMed rs141041539, gnomAD rs141041539, REVEL 0.56, ESM-1b 0.00
- A164V (p.Ala164Val), rs1277901726, gnomAD rs1277901726, REVEL 0.28, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
Public ATP6V0A4 analysis runs
- ATP6V0A4 analysis run — ATP6V0A4 (1,160 variants) — completed 2026-10-09