MMAB (Q96EY8) variants and mutations
MMAB (also known as Q96EY8) is a human protein-coding gene encoding a corrinoid adenosyltransferase protein. A mitochondrial enzyme that converts cobalamin into adenosylcobalamin, the cofactor used by methylmalonyl-CoA mutase. Variants cause the cblB form of methylmalonic acidemia. This analysis covers 440 MMAB variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes methylmalonic aciduria cblb type, vitamin B12-responsive methylmalonic acidemia, and methylmalonic acidemia. Example MMAB variants include M1K, M1L, and M1R.
Variant analysis overview
- Gene: MMAB
- Protein: Q96EY8
- UniProt accession: Q96EY8
- Organism: Homo sapiens
- Variants analyzed: 440
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 341 unspecified-consequence records; 32 synonymous variants; 51 missense variants; 18 frameshift variants; 6 stop-gained variants; 3 splice-region variants; 4 in-frame deletions; 2 in-frame insertions; 3 substitution
- Prediction scores: 422 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: methylmalonic aciduria cblb type, vitamin B12-responsive methylmalonic acidemia, methylmalonic acidemia, hereditary disease, neurodegenerative disease, Methylmalonic aciduria, myocardial infarction, gout, porokeratosis 3, disseminated superficial actinic type, hearing loss disorder, sensorineural hearing loss disorder, Age-related cataract.
Protein structure and variant hotspots
- Protein features: 5 binding sites; 4 post-translational modification sites.
- PTM context: 3 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, MaveDB, LitVar.
Diseases linked to MMAB
Notable MMAB variants
Examples include M1K, M1L, M1R, M1T, A2P, A2S, A2T, A2V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs869320655, ClinGen CA386641680, ClinVar RCV003500093, ESM-1b 1.00, AlphaMissense 0.23, Pathogenic, Methylmalonic aciduria, cblB type
- M1L (p.Met1Leu), rs1884749143, ClinGen CA386641683, ClinVar RCV001067639, ESM-1b 1.00, AlphaMissense 0.09, Pathogenic, Methylmalonic aciduria, cblB type
- M1R (p.Met1Arg), rs869320655, ClinGen CA386641676, ClinVar RCV001377746, ESM-1b 1.00, AlphaMissense 0.16, Likely pathogenic, Methylmalonic aciduria, cblB type
- M1T (p.Met1Thr), rs869320655, ClinGen CA358800, ClinVar RCV000210846, ESM-1b 1.00, AlphaMissense 0.24, Pathogenic/Likely pathogenic, Methylmalonic aciduria, cblB type
- A2P (p.Ala2Pro), TOPMed rs1157166932, gnomAD rs1157166932, REVEL 0.47, ESM-1b 1.00
- A2S (p.Ala2Ser), TOPMed rs1157166932, gnomAD rs1157166932, REVEL 0.35, ESM-1b 1.00
- A2T (p.Ala2Thr), TOPMed rs1157166932, gnomAD rs1157166932, REVEL 0.45, ESM-1b 1.00
- A2V (p.Ala2Val), gnomAD rs1455449419, REVEL 0.30, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- V3A (p.Val3Ala), TOPMed rs1884747870, REVEL 0.24, ESM-1b 0.00
- V3G (p.Val3Gly), TOPMed rs1884747870, REVEL 0.45, ESM-1b 0.00
- V3M (p.Val3Met), rs1884748119, ClinGen CA386641652, ClinVar RCV001113946, Ensembl rs1884748119, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- C4* (p.Cys4Ter), rs1481415459, ClinGen CA386641620, ClinVar RCV000665638, ClinVar RCV001576371, CADD 35.00, Pathogenic
- C4R (p.Cys4Arg), rs146668962, ClinGen CA6779089, ClinVar RCV000883287, ClinVar RCV003910420, REVEL 0.31, ESM-1b 0.00, Conflicting interpretations, Methylmalonic aciduria, cblB type
- C4W (p.Cys4Trp), TOPMed rs1481415459, gnomAD rs1481415459, ESM-1b 0.00, AlphaMissense 0.16, Pathogenic
- G5A (p.Gly5Ala), ExAC rs769048646, TOPMed rs769048646, gnomAD rs769048646, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- G5D (p.Gly5Asp), rs769048646, ClinGen CA6779087, ClinVar RCV001277396, ClinVar RCV004035446, REVEL 0.26, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type; Inborn genetic diseases
- G5S (p.Gly5Ser), Ensembl rs1218365048, REVEL 0.12, ESM-1b 0.00
- G5V (p.Gly5Val), ExAC rs769048646, TOPMed rs769048646, gnomAD rs769048646, REVEL 0.27, ESM-1b 0.00, Uncertain significance
- L6P (p.Leu6Pro), TOPMed rs1485879857, gnomAD rs1485879857, REVEL 0.37, ESM-1b 0.90
- L6R (p.Leu6Arg), TOPMed rs1485879857, gnomAD rs1485879857, ESM-1b 1.00, AlphaMissense 0.06
- L6V (p.Leu6Val), gnomAD rs1190176115, REVEL 0.14, ESM-1b 0.21, Uncertain significance, Methylmalonic aciduria, cblB type
- G7E (p.Gly7Glu), gnomAD rs1243516923, REVEL 0.26, ESM-1b 1.00
- G7R (p.Gly7Arg), TOPMed rs1228648416, REVEL 0.22, ESM-1b 0.06
- R9C (p.Arg9Cys), ExAC rs745645666, TOPMed rs745645666, gnomAD rs745645666, REVEL 0.24, ESM-1b 0.57, Uncertain significance, Methylmalonic aciduria, cblB type
- R9P (p.Arg9Pro), TOPMed rs1051133948, gnomAD rs1051133948, REVEL 0.28, ESM-1b 1.00
- L10H (p.Leu10His), TOPMed rs1273536043, gnomAD rs1273536043, REVEL 0.35, ESM-1b 1.00
- L10I (p.Leu10Ile), ExAC rs778630670, TOPMed rs778630670, gnomAD rs778630670, REVEL 0.21, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- L10V (p.Leu10Val), ExAC rs778630670, TOPMed rs778630670, gnomAD rs778630670, ESM-1b 0.12, AlphaMissense 0.07, Uncertain significance
- G11A (p.Gly11Ala), TOPMed rs1481780966, gnomAD rs1481780966, REVEL 0.23, ESM-1b 0.06
- G11S (p.Gly11Ser), ExAC rs749112019, gnomAD rs749112019, REVEL 0.26, ESM-1b 0.80
- L12P (p.Leu12Pro), rs533819939, ClinGen CA6779082, ClinVar RCV001578623, 1000Genomes rs533819939, REVEL 0.50, ESM-1b 0.70, Uncertain significance, Methylmalonic aciduria, cblB type
- L12V (p.Leu12Val), TOPMed rs1884743761, REVEL 0.21, ESM-1b 0.57
- G13R (p.Gly13Arg), TOPMed rs1884743370, REVEL 0.15, ESM-1b 0.00
- S14N (p.Ser14Asn), rs755568905, ClinGen CA6779081, ClinVar RCV001314546, ExAC rs755568905, REVEL 0.09, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- S14R (p.Ser14Arg), gnomAD rs1884743079, REVEL 0.23, ESM-1b 0.00, Likely benign
- R15C (p.Arg15Cys), rs921232728, ClinGen CA243451913, ClinVar RCV000756342, ClinVar RCV001869021, REVEL 0.42, ESM-1b 0.20, Uncertain significance, not provided; Methylmalonic aciduria, cblB type
- R15H (p.Arg15His), rs367711757, ClinGen CA6779080, ClinVar RCV001065308, ESP rs367711757, REVEL 0.33, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- R15P (p.Arg15Pro), ESP rs367711757, ExAC rs367711757, TOPMed rs367711757, gnomAD rs367711757, REVEL 0.44, ESM-1b 0.90, Uncertain significance
- L16F (p.Leu16Phe), Ensembl rs1884742324, REVEL 0.19, ESM-1b 0.58
- G17V (p.Gly17Val), gnomAD rs1337192403, REVEL 0.48, ESM-1b 0.07
- L18M (p.Leu18Met), rs374802787, ClinGen CA6779079, ClinVar RCV002122178, ClinVar RCV005601872, REVEL 0.45, ESM-1b 1.00, Conflicting interpretations, Methylmalonic aciduria, cblB type; Inborn genetic diseases
- L18P (p.Leu18Pro), TOPMed rs1884741615, ESM-1b 0.00, AlphaMissense 0.12
- R19* (p.Arg19Ter), rs2548614273, ClinGen CA2739277307, ClinVar RCV003608641, Pathogenic
- R19G (p.Arg19Gly), gnomAD rs1566139298, REVEL 0.34, ESM-1b 0.00
- R19H (p.Arg19His), rs10774775, ClinGen CA6779078, cosmic curated COSV57169, ClinVar RCV000247935, REVEL 0.33, ESM-1b 1.00, Benign, not specified; not provided; Methylmalonic aciduria, cblB type
- R19L (p.Arg19Leu), 1000Genomes rs10774775, ESP rs10774775, ExAC rs10774775, TOPMed rs10774775, REVEL 0.47, ESM-1b 0.00, Benign
- R19Q (p.Arg19Gln), rs36013132, ClinGen CA347899, ClinVar RCV000408901, ClinVar RCV000589479, ESM-1b 0.50, AlphaMissense 0.14, Uncertain significance, not provided; Methylmalonic aciduria, cblB type
- G20R (p.Gly20Arg), Ensembl rs1566139259, REVEL 0.33, ESM-1b 0.00
- G20V (p.Gly20Val), ExAC rs751944516, TOPMed rs751944516, ESM-1b 0.00, AlphaMissense 0.12
- C21* (p.Cys21Ter), rs376611965, ClinGen CA386641394, ClinVar RCV003470143, Likely pathogenic
- C21G (p.Cys21Gly), ExAC rs763383858, TOPMed rs763383858, gnomAD rs763383858, ESM-1b 0.00, AlphaMissense 0.05, Uncertain significance
- C21S (p.Cys21Ser), rs763383858, ClinGen CA312720, cosmic curated COSV57170, ClinVar RCV002024925, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- F22L (p.Phe22Leu), rs765869812, ClinGen CA6779070, ClinVar RCV003068281, ExAC rs765869812, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- G23D (p.Gly23Asp), rs767706407, ClinGen CA6779069, ClinVar RCV001113945, ClinVar RCV002556226, REVEL 0.34, ESM-1b 0.89, Uncertain significance, Methylmalonic aciduria, cblB type; not provided; Inborn genetic diseases
- A25D (p.Ala25Asp), gnomAD rs1482460047, ESM-1b 1.00, AlphaMissense 0.15
- R26G (p.Arg26Gly), gnomAD rs1255926992, REVEL 0.42, ESM-1b 0.00
- R26S (p.Arg26Ser), 1000Genomes rs539715623, ExAC rs539715623, TOPMed rs539715623, gnomAD rs539715623, REVEL 0.33, ESM-1b 0.00, Likely benign
- L27F (p.Leu27Phe), rs150895111, ClinGen CA6779067, ClinVar RCV000387095, ClinVar RCV002518922, REVEL 0.25, ESM-1b 0.00, Uncertain significance, not specified; Inborn genetic diseases; Methylmalonic aciduria, cblB type
- L27I (p.Leu27Ile), 1000Genomes rs150895111, ESP rs150895111, ExAC rs150895111, TOPMed rs150895111, REVEL 0.13, ESM-1b 0.00, Uncertain significance
- L27P (p.Leu27Pro), gnomAD rs1295581786, REVEL 0.52, ESM-1b 0.00
- Y29* (p.Tyr29Ter), rs2136213423, ClinGen CA386641296, ClinVar RCV001527444, Ensembl rs2136213423, Pathogenic
- Y29C (p.Tyr29Cys), TOPMed rs1884737675, gnomAD rs1884737675, REVEL 0.28, ESM-1b 0.00
- P30L (p.Pro30Leu), gnomAD rs1397594349, REVEL 0.19, ESM-1b 0.00
- P30S (p.Pro30Ser), rs550461600, ClinGen CA6779065, ClinVar RCV003338191, ClinVar RCV004961272, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type; Inborn genetic diseases
- R31C (p.Arg31Cys), rs142447736, ClinGen CA6779064, ClinVar RCV001456833, ClinVar RCV006266796, REVEL 0.46, ESM-1b 0.19, Conflicting interpretations, Methylmalonic aciduria, cblB type; not specified; not provided
- R31G (p.Arg31Gly), ESP rs142447736, ExAC rs142447736, TOPMed rs142447736, gnomAD rs142447736, REVEL 0.43, ESM-1b 0.21, Uncertain significance
- R31H (p.Arg31His), Ensembl rs1221442813, ESM-1b 0.24, AlphaMissense 0.12
- S34I (p.Ser34Ile), Ensembl rs2136213382, ESM-1b 1.00, AlphaMissense 0.14
- R35C (p.Arg35Cys), Ensembl rs991822103, REVEL 0.25, ESM-1b 0.00
- P37L (p.Pro37Leu), ExAC rs756081192, gnomAD rs756081192, REVEL 0.22, ESM-1b 0.00
- P37S (p.Pro37Ser), gnomAD rs1884735250, REVEL 0.18, ESM-1b 0.00
- Q38* (p.Gln38Ter), rs2548614137, ClinGen CA386641198, ClinVar RCV003461862, CADD 37.00, Likely pathogenic
- Q38L (p.Gln38Leu), cosmic curated COSV10720, TOPMed rs1884734894, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Methylmalonic aciduria, cblB type
- G39C (p.Gly39Cys), TOPMed rs1355023968, gnomAD rs1355023968, REVEL 0.31, ESM-1b 0.20
- G39D (p.Gly39Asp), rs1466525448, ClinGen CA386641183, ClinVar RCV001277395, TOPMed rs1466525448, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- G39S (p.Gly39Ser), TOPMed rs1355023968, gnomAD rs1355023968, REVEL 0.21, ESM-1b 0.00
- G39V (p.Gly39Val), TOPMed rs1466525448, gnomAD rs1466525448, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance
- V40L (p.Val40Leu), TOPMed rs1189614583, gnomAD rs1189614583, REVEL 0.15, ESM-1b 0.00
- D42V (p.Asp42Val), TOPMed rs952546917, ESM-1b 0.00, AlphaMissense 0.09
- D44E (p.Asp44Glu), ExAC rs747649185, gnomAD rs747649185, REVEL 0.18, ESM-1b 0.00, Likely benign
- R45M (p.Arg45Met), ExAC rs780742465, TOPMed rs780742465, gnomAD rs780742465, REVEL 0.40, ESM-1b 0.00
- R45T (p.Arg45Thr), ExAC rs780742465, TOPMed rs780742465, gnomAD rs780742465, REVEL 0.28, ESM-1b 0.00
- P46R (p.Pro46Arg), gnomAD rs1884633131, REVEL 0.24, ESM-1b 0.00
- P46S (p.Pro46Ser), gnomAD rs1208127660, REVEL 0.23, ESM-1b 0.00
- P46T (p.Pro46Thr), gnomAD rs1208127660, REVEL 0.22, ESM-1b 0.00
- Q47* (p.Gln47Ter), rs1884632948, ClinGen CA386640512, ClinVar RCV003502005, TOPMed rs1884632948, Pathogenic
- S50L (p.Ser50Leu), rs375412819, cosmic curated COSV99904, ESP rs375412819, ExAC rs375412819, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- K51E (p.Lys51Glu), Ensembl rs747948804, REVEL 0.15, ESM-1b 0.00
- P53A (p.Pro53Ala), gnomAD rs1884632137, REVEL 0.14, ESM-1b 0.90
- P53L (p.Pro53Leu), rs764683053, ClinGen CA6779030, ClinVar RCV001113944, ClinVar RCV002556225, REVEL 0.17, ESM-1b 0.76, Uncertain significance, Inborn genetic diseases; not provided; Methylmalonic aciduria, cblB type
- R54G (p.Arg54Gly), Ensembl rs1566137866, REVEL 0.17, ESM-1b 1.00
- R54K (p.Arg54Lys), rs2136210801, ClinGen CA386640376, ClinVar RCV001359820, Ensembl rs2136210801, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Methylmalonic aciduria, cblB type
- P56S (p.Pro56Ser), cosmic curated COSV10505, ExAC rs760645210, TOPMed rs760645210, gnomAD rs760645210, REVEL 0.62, ESM-1b 0.74, Uncertain significance, Inborn genetic diseases
- I58V (p.Ile58Val), TOPMed rs1884631526, gnomAD rs1884631526, REVEL 0.54, ESM-1b 1.00
- T60I (p.Thr60Ile), Ensembl rs2136210788, ESM-1b 1.00, AlphaMissense 0.91
- K61Q (p.Lys61Gln), gnomAD rs1409198400, REVEL 0.84, ESM-1b 1.00
- K61R (p.Lys61Arg), ExAC rs767626783, gnomAD rs767626783, REVEL 0.27, ESM-1b 0.00
- T62A (p.Thr62Ala), rs759809454, ClinGen CA6779026, ClinVar RCV001277394, ClinVar RCV004951439, REVEL 0.82, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type; Inborn genetic diseases
- T62M (p.Thr62Met), rs115802744, ClinGen CA312710, cosmic curated COSV99031, ClinVar RCV000539204, REVEL 0.85, ESM-1b 1.00, Benign/Likely benign, not specified; not provided; Mevalonic aciduria
- T62R (p.Thr62Arg), 1000Genomes rs115802744, ESP rs115802744, ExAC rs115802744, TOPMed rs115802744, REVEL 0.89, ESM-1b 1.00, Benign
- G63R (p.Gly63Arg), TOPMed rs1884630479, ESM-1b 1.00, AlphaMissense 0.79
- G66E (p.Gly66Glu), gnomAD rs1360503313, REVEL 0.91, ESM-1b 1.00
- G66V (p.Gly66Val), gnomAD rs1360503313, ESM-1b 1.00, AlphaMissense 0.74
- F67Y (p.Phe67Tyr), TOPMed rs1884534309, ESM-1b 1.00, AlphaMissense 0.14, Uncertain significance, Inborn genetic diseases
- S68C (p.Ser68Cys), gnomAD rs1296874378, REVEL 0.93, ESM-1b 1.00
- S69N (p.Ser69Asn), rs147297426, ClinGen CA6779003, ClinVar RCV001478658, 1000Genomes rs147297426, REVEL 0.66, ESM-1b 1.00, Likely benign, Methylmalonic aciduria, cblB type
- S69R (p.Ser69Arg), ExAC rs771667098, gnomAD rs771667098, REVEL 0.68, ESM-1b 0.00
- S69T (p.Ser69Thr), rs147297426, ClinGen CA6779004, ClinVar RCV001277393, 1000Genomes rs147297426, REVEL 0.60, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- T70A (p.Thr70Ala), gnomAD rs1170620183, REVEL 0.72, ESM-1b 1.00
- E74* (p.Glu74Ter), rs2136208377, ClinGen CA386639750, ClinVar RCV001380085, Ensembl rs2136208377, CADD 38.00, Pathogenic
- E74D (p.Glu74Asp), rs1389815526, ClinGen CA386639737, ClinVar RCV001829450, TOPMed rs1389815526, REVEL 0.39, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- D79N (p.Asp79Asn), Ensembl rs572383545, ESM-1b 1.00, AlphaMissense 0.11, Uncertain significance, Inborn genetic diseases
- D80H (p.Asp80His), gnomAD rs1184367667, REVEL 0.89, ESM-1b 1.00
- Q81R (p.Gln81Arg), rs2548610981, ClinGen CA386639603, ClinVar RCV002827519, REVEL 0.26, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- F83L (p.Phe83Leu), rs571555515, ClinGen CA6779000, ClinVar RCV001246675, 1000Genomes rs571555515, REVEL 0.71, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- F83S (p.Phe83Ser), rs1185132313, ClinGen CA386639576, ClinVar RCV001304679, TOPMed rs1185132313, REVEL 0.97, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- A85V (p.Ala85Val), rs770743560, ClinGen CA6778999, ClinVar RCV001112608, ExAC rs770743560, REVEL 0.86, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- V86M (p.Val86Met), rs143935056, ClinGen CA6778998, ClinVar RCV001042369, ESP rs143935056, REVEL 0.26, ESM-1b 0.40, Uncertain significance, Methylmalonic aciduria, cblB type
- G87V (p.Gly87Val), gnomAD rs1206707582, REVEL 0.93, ESM-1b 1.00, Uncertain significance, not specified
- T89A (p.Thr89Ala), TOPMed rs994513423, gnomAD rs994513423, REVEL 0.54, ESM-1b 1.00
- D90G (p.Asp90Gly), TOPMed rs1414136461, ESM-1b 1.00, AlphaMissense 0.86
- L92S (p.Leu92Ser), ExAC rs778256928, gnomAD rs778256928, REVEL 0.92, ESM-1b 1.00
- S93I (p.Ser93Ile), Ensembl rs1422698047, REVEL 0.88, ESM-1b 1.00
- A95T (p.Ala95Thr), gnomAD rs1158804708, REVEL 0.60, ESM-1b 0.89
- A95V (p.Ala95Val), ExAC rs756445649, gnomAD rs756445649, REVEL 0.63, ESM-1b 1.00
- I96M (p.Ile96Met), 1000Genomes rs62000414, ESP rs62000414, ExAC rs62000414, TOPMed rs62000414, REVEL 0.78, ESM-1b 1.00, Benign, in MACB
- I96T (p.Ile96Thr), rs864309509, ClinGen CA347809, ClinVar RCV000202588, UniProt VAR 023471, ESM-1b 1.00, AlphaMissense 0.26, Likely pathogenic, Methylmalonic aciduria, cblB type
- I96V (p.Ile96Val), ExAC rs748625642, gnomAD rs748625642, ESM-1b 0.64, AlphaMissense 0.08
- G97E (p.Gly97Glu), rs864309511, ClinGen CA278561, ClinVar RCV000202589, Ensembl rs864309511, ESM-1b 1.00, AlphaMissense 0.96, Pathogenic/Likely pathogenic, Methylmalonic aciduria, cblB type
- G97R (p.Gly97Arg), ExAC rs755006914, gnomAD rs755006914, REVEL 0.95, ESM-1b 1.00
- E101A (p.Glu101Ala), TOPMed rs1409906374, gnomAD rs1409906374, ESM-1b 1.00, AlphaMissense 0.18
- V103I (p.Val103Ile), Ensembl rs1884373490, ESM-1b 0.00, AlphaMissense 0.07
- K106E (p.Lys106Glu), rs765917146, ClinGen CA6778961, ClinVar RCV000642154, ClinVar RCV004957938, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Methylmalonic aciduria, cblB type
- G107V (p.Gly107Val), TOPMed rs1274386577, REVEL 0.74, ESM-1b 1.00
- H108R (p.His108Arg), gnomAD rs1371803607, REVEL 0.35, ESM-1b 0.06, Uncertain significance, not provided
- T109A (p.Thr109Ala), Ensembl rs112135078, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases
- T109I (p.Thr109Ile), rs762404377, ClinGen CA6778960, ClinVar RCV001926092, ExAC rs762404377, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- T109K (p.Thr109Lys), ExAC rs762404377, TOPMed rs762404377, gnomAD rs762404377, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance
- E112* (p.Glu112Ter), rs376219481, ClinGen CA386638601, ClinVar RCV003501721, ESP rs376219481, AlphaMissense 0.07, MetaLR 0.71, Pathogenic
- E112K (p.Glu112Lys), rs376219481, ClinGen CA6778957, cosmic curated COSV57169, ClinVar RCV002803459, REVEL 0.23, ESM-1b 1.00, Likely benign, Inborn genetic diseases
- E113D (p.Glu113Asp), rs2136203868, ClinGen CA386638589, ClinVar RCV001362199, Ensembl rs2136203868, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- Q115H (p.Gln115His), TOPMed rs1422394210, gnomAD rs1422394210, REVEL 0.35, ESM-1b 0.23, Uncertain significance, Inborn genetic diseases
- K116E (p.Lys116Glu), rs551289581, ClinGen CA6778956, ClinVar RCV000485504, ClinVar RCV001828509, REVEL 0.38, ESM-1b 0.88, Uncertain significance, not provided; Methylmalonic aciduria, cblB type
- Q118E (p.Gln118Glu), ExAC rs776280248, gnomAD rs776280248, REVEL 0.90, ESM-1b 1.00
- Q118R (p.Gln118Arg), ExAC rs768944676, gnomAD rs768944676, REVEL 0.96, ESM-1b 1.00
- C119* (p.Cys119Ter), rs2548605435, ClinGen CA386637748, ClinVar RCV003607680, Pathogenic
- C119R (p.Cys119Arg), TOPMed rs1884224138, REVEL 0.67, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- T120I (p.Thr120Ile), gnomAD rs1384787742, ESM-1b 0.00, AlphaMissense 0.09
- Q122R (p.Gln122Arg), ExAC rs775952240, gnomAD rs775952240, REVEL 0.80, ESM-1b 1.00
- D123N (p.Asp123Asn), TOPMed rs1459109378, gnomAD rs1459109378, REVEL 0.76, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- V124I (p.Val124Ile), rs573706523, ClinGen CA6778932, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99904, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- G125S (p.Gly125Ser), rs193015172, ClinGen CA6778930, cosmic curated COSV99904, ClinVar RCV000642153, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- S126L (p.Ser126Leu), rs771053425, ClinGen CA6778929, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99904, REVEL 0.88, ESM-1b 1.00, Conflicting interpretations, Methylmalonic aciduria, cblB type; not provided
- S126P (p.Ser126Pro), gnomAD rs1454037914, REVEL 0.78, ESM-1b 1.00
- A127D (p.Ala127Asp), rs778169806, ClinGen CA6778927, ClinVar RCV001527449, ExAC rs778169806, REVEL 0.52, ESM-1b 0.00, Likely pathogenic, Methylmalonic aciduria, cblB type
- A127T (p.Ala127Thr), TOPMed rs1466039282, gnomAD rs1466039282, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- A127V (p.Ala127Val), ExAC rs778169806, TOPMed rs778169806, gnomAD rs778169806, ESM-1b 0.00, AlphaMissense 0.13, Likely pathogenic
- L128P (p.Leu128Pro), gnomAD rs1345625345, ESM-1b 1.00, AlphaMissense 0.92
- A129V (p.Ala129Val), 1000Genomes rs201189970, ESP rs201189970, ExAC rs201189970, TOPMed rs201189970, REVEL 0.86, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; Methylmalonic aciduria, cblB type
- P131A (p.Pro131Ala), TOPMed rs1369813638, gnomAD rs1369813638, REVEL 0.75, ESM-1b 1.00
- P131T (p.Pro131Thr), TOPMed rs1369813638, gnomAD rs1369813638, REVEL 0.84, ESM-1b 1.00
- C132R (p.Cys132Arg), rs147457956, ClinGen CA6778924, cosmic curated COSV99904, ClinVar RCV000824472, REVEL 0.20, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; Methylmalonic aciduria, cblB type; not specified
- C132T (p.Cys132Thr), NCI-TCGA Cosmic COSV5717, cosmic curated COSV57170, Variant assessed as somatic; moderate impact.
- S133F (p.Ser133Phe), rs749936057, ClinGen CA6778922, ClinVar RCV000668683, ExAC rs749936057, REVEL 0.75, ESM-1b 1.00, Conflicting interpretations, Methylmalonic aciduria, cblB type
- S133P (p.Ser133Pro), ESP rs149342750, ExAC rs149342750, TOPMed rs149342750, gnomAD rs149342750, REVEL 0.35, ESM-1b 1.00
- S134L (p.Ser134Leu), rs138708209, ClinGen CA6778921, cosmic curated COSV57171, ClinVar RCV001110623, REVEL 0.66, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- A135T (p.Ala135Thr), rs35648932, ClinGen CA347906, cosmic curated COSV10507, ClinVar RCV000203394, REVEL 0.68, ESM-1b 0.00, Conflicting interpretations, not specified; not provided; Methylmalonic aciduria, cblB type
- A135V (p.Ala135Val), TOPMed rs1328998235, gnomAD rs1328998235, REVEL 0.79, ESM-1b 0.11
- R136P (p.Arg136Pro), TOPMed rs796051994, gnomAD rs796051994, REVEL 0.63, ESM-1b 1.00, Uncertain significance
- R136Q (p.Arg136Gln), rs796051994, ClinVar RCV005006781, ClinVar RCV005377682, TOPMed rs796051994, REVEL 0.55, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; Methylmalonic aciduria, cblB type
- R136W (p.Arg136Trp), ExAC rs763783083, TOPMed rs763783083, gnomAD rs763783083, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type
- E137K (p.Glu137Lys), ExAC rs775783529, gnomAD rs775783529, REVEL 0.53, ESM-1b 1.00
- H139Y (p.His139Tyr), gnomAD rs1190696935, REVEL 0.56, ESM-1b 1.00
- K141R (p.Lys141Arg), TOPMed rs1884205260, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- Y142C (p.Tyr142Cys), TOPMed rs1047443761, gnomAD rs1047443761, REVEL 0.29, ESM-1b 1.00, Uncertain significance
- Y142H (p.Tyr142His), rs886198506, ClinGen CA243448350, ClinVar RCV000792770, ClinVar RCV004692245, REVEL 0.16, ESM-1b 0.15, Uncertain significance, Methylmalonic aciduria, cblB type; not provided
- Y142S (p.Tyr142Ser), rs1047443761, ClinGen CA243448348, ClinVar RCV003115019, ClinVar RCV005602013, REVEL 0.22, ESM-1b 1.00, Uncertain significance, Methylmalonic aciduria, cblB type; not provided; Inborn genetic diseases
- T144A (p.Thr144Ala), rs561864335, ClinGen CA243448346, ClinVar RCV002606595, 1000Genomes rs561864335, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblB type
- T144M (p.Thr144Met), TOPMed rs1231969665, gnomAD rs1231969665, REVEL 0.21, ESM-1b 1.00
- F145L (p.Phe145Leu), gnomAD rs1452974630, REVEL 0.42, ESM-1b 1.00
Public MMAB analysis runs
- MMAB analysis run — MMAB (440 variants) — completed 2026-10-09