MMAA (Q8IVH4) variants and mutations
MMAA (also known as Q8IVH4) is a human protein-coding gene encoding a methylmalonic aciduria type A protein, mitochondrial protein. A mitochondrial GTPase that helps deliver and reactivate vitamin B12 cofactor for methylmalonyl-CoA mutase. Variants cause the cblA form of methylmalonic acidemia. This analysis covers 799 MMAA variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes methylmalonic aciduria, cblA type, vitamin B12-responsive methylmalonic acidemia, and methylmalonic acidemia. Example MMAA variants include M1V, P2S, and P2P.
Variant analysis overview
- Gene: MMAA
- Protein: Q8IVH4
- UniProt accession: Q8IVH4
- Organism: Homo sapiens
- Variants analyzed: 799
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 565 unspecified-consequence records; 111 missense variants; 105 synonymous variants; 26 frameshift variants; 3 in-frame deletions; 2 stop-gained variants; 5 splice-region variants
- Prediction scores: 772 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: methylmalonic aciduria, cblA type, vitamin B12-responsive methylmalonic acidemia, methylmalonic acidemia, methylmalonic aciduria (cobalamin deficiency) cblA type, vitamin B12 deficiency, Methylmalonic aciduria, methylmalonic aciduria cblb type, megaloblastic anemia, deficiency anemia, vitamin B deficiency, hereditary disease, jaw disease.
Protein structure and variant hotspots
- Protein features: 3 binding 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 MMAA
Notable MMAA variants
Examples include M1V, P2S, P2P, M3V, M3I, L4V, L4L, L5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs1553957856, ClinGen CA358350686, ClinVar RCV000666843, ESM-1b 0.83, AlphaMissense 0.06, Likely pathogenic, Methylmalonic aciduria, cblA type
- P2S (p.Pro2Ser), gnomAD 4-145639143-C-T, REVEL 0.16, ESM-1b 0.00
- P2P (p.Pro2Pro), gnomAD 4-145639145-C-A, CADD 0.46
- M3V (p.Met3Val), rs527340737, ClinGen CA3095100, NCI-TCGA Cosmic COSV9985, cosmic curated COSV99850, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Methylmalonic aciduria, cblA type
- M3I (p.Met3Ile), gnomAD 4-145639147-TG-T, CADD 22.30
- L4V (p.Leu4Val), Ensembl rs1727704401, ESM-1b 0.00, AlphaMissense 0.07
- L4L (p.Leu4Leu), rs1277442766, gnomAD 4-145639151-G-C, CADD 3.77
- L5L (p.Leu5Leu), rs755914586, gnomAD 4-145639154-A-G, CADD 0.15
- P6S (p.Pro6Ser), cosmic curated COSV10633, ESM-1b 0.00, AlphaMissense 0.07
- P6P (p.Pro6Pro), rs1475810803, gnomAD 4-145639157-A-G, CADD 0.31
- H7R (p.His7Arg), ExAC rs777599101, TOPMed rs777599101, gnomAD rs777599101, REVEL 0.12, ESM-1b 0.00
- H7H (p.His7His), rs921313777, gnomAD 4-145639160-T-C, CADD 2.89
- P8L (p.Pro8Leu), cosmic curated COSV10726, gnomAD rs1410541695, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- P8R (p.Pro8Arg), gnomAD rs1410541695, REVEL 0.42, ESM-1b 0.00, Uncertain significance
- P8S (p.Pro8Ser), cosmic curated COSV10515, REVEL 0.26, ESM-1b 0.00
- H9D (p.His9Asp), Ensembl rs2126616976, REVEL 0.48, ESM-1b 0.00
- Q10H (p.Gln10His), TOPMed rs1398642545, gnomAD rs1398642545, REVEL 0.10, ESM-1b 0.00
- Q10E (p.Gln10Glu), gnomAD 4-145639167-C-G, REVEL 0.18, ESM-1b 0.00
- Q10Q (p.Gln10Gln), rs1398642545, gnomAD 4-145639169-G-A, CADD 4.27
- H11R (p.His11Arg), ExAC rs749076210, TOPMed rs749076210, gnomAD rs749076210, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- H11H (p.His11His), rs370983676, gnomAD 4-145639172-T-C, CADD 2.26
- F12V (p.Phe12Val), ExAC rs757224297, gnomAD rs757224297, REVEL 0.18, ESM-1b 0.00
- F12F (p.Phe12Phe), rs1661385949, gnomAD 4-145639175-C-T, CADD 8.37
- L13V (p.Leu13Val), ExAC rs778693852, gnomAD rs778693852, ESM-1b 0.00, AlphaMissense 0.08
- G15D (p.Gly15Asp), ESP rs371810384, ExAC rs371810384, TOPMed rs371810384, gnomAD rs371810384, REVEL 0.38, ESM-1b 0.00
- G15R (p.Gly15Arg), Ensembl rs893538330, REVEL 0.22, ESM-1b 0.00
- G15S (p.Gly15Ser), cosmic curated COSV55582, REVEL 0.17, ESM-1b 0.00
- G15G (p.Gly15Gly), rs771417006, gnomAD 4-145639184-C-A, CADD 7.69
- L16I (p.Leu16Ile), gnomAD 4-145639185-C-A, REVEL 0.31, ESM-1b 0.00
- L16L (p.Leu16Leu), gnomAD 4-145639187-T-C, CADD 2.78
- L17* (p.Leu17Ter), rs775224246, ClinGen CA358350968, ClinVar RCV003470136, CADD 32.00, Likely pathogenic
- L17S (p.Leu17Ser), ExAC rs775224246, REVEL 0.42, ESM-1b 0.00, Likely pathogenic
- L17I (p.Leu17Ile), gnomAD 4-145639188-T-A, REVEL 0.18, ESM-1b 0.00
- L17L (p.Leu17Leu), rs1287869365, gnomAD 4-145639190-A-G, CADD 1.26
- R18G (p.Arg18Gly), NCI-TCGA Cosmic COSV5557, cosmic curated COSV55579, ESM-1b 0.00, AlphaMissense 0.09, Variant assessed as somatic; moderate impact.
- R18K (p.Arg18Lys), ExAC rs746718277, gnomAD rs746718277, REVEL 0.17, ESM-1b 0.00
- R18R (p.Arg18Arg), rs1560795722, gnomAD 4-145639191-A-C, CADD 0.67
- R18S (p.Arg18Ser), gnomAD 4-145639193-A-C, REVEL 0.54, ESM-1b 0.00
- A19A (p.Ala19Ala), rs143211378, gnomAD 4-145639196-A-G, CADD 5.79
- P20A (p.Pro20Ala), ExAC rs762251343, gnomAD rs762251343, REVEL 0.23, ESM-1b 0.00
- P20R (p.Pro20Arg), gnomAD 4-145639198-C-G, REVEL 0.28, ESM-1b 0.00
- P20L (p.Pro20Leu), gnomAD 4-145639198-C-T, REVEL 0.17, ESM-1b 0.00
- R22* (p.Arg22Ter), rs765799472, ClinGen CA347868, NCI-TCGA Cosmic COSV5558, cosmic curated COSV55580, CADD 34.00, Pathogenic
- R22L (p.Arg22Leu), rs375682603, ClinGen CA3095113, cosmic curated COSV55579, ClinVar RCV001278247, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- R22Q (p.Arg22Gln), rs375682603, ClinGen CA3095114, cosmic curated COSV55580, ClinVar RCV001979024, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- C23R (p.Cys23Arg), rs889048711, ClinGen CA107719956, ClinVar RCV001278248, TOPMed rs889048711, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- C23Y (p.Cys23Tyr), ESP rs370709347, TOPMed rs370709347, gnomAD rs370709347, REVEL 0.17, ESM-1b 0.00
- Y24* (p.Tyr24Ter), rs1553957883, ClinGen CA358351092, ClinVar RCV000509025, ClinVar RCV001250250, CADD 33.00, Pathogenic
- H25D (p.His25Asp), gnomAD rs1282901331, REVEL 0.33, ESM-1b 0.00
- H25Q (p.His25Gln), rs1160270910, ClinGen CA358351108, ClinVar RCV004514256, TOPMed rs1160270910, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- F26L (p.Phe26Leu), ExAC rs766309050, gnomAD rs766309050, ESM-1b 0.00, AlphaMissense 0.31
- I27L (p.Ile27Leu), ExAC rs756348773, gnomAD rs756348773, REVEL 0.16, ESM-1b 0.00
- I27T (p.Ile27Thr), Ensembl rs1727707599, ESM-1b 0.00, AlphaMissense 0.12
- I27V (p.Ile27Val), ExAC rs756348773, gnomAD rs756348773, ESM-1b 0.00, AlphaMissense 0.07
- I27H (p.Ile27His), rs762276953, gnomAD 4-145639216-T-TC, CADD 22.40
- H29L (p.His29Leu), ESP rs367809749, ExAC rs367809749, TOPMed rs367809749, gnomAD rs367809749, REVEL 0.26, ESM-1b 0.00, Uncertain significance
- H29R (p.His29Arg), rs367809749, ClinGen CA3095119, ClinVar RCV001278249, ESP rs367809749, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- H29Y (p.His29Tyr), Ensembl rs2126617078, REVEL 0.23, ESM-1b 0.00
- S30L (p.Ser30Leu), cosmic curated COSV55581, ESM-1b 0.00, AlphaMissense 0.09
- S30Q (p.Ser30Gln), rs765782136, gnomAD 4-145639225-AC-A, CADD 20.40
- S30K (p.Ser30Lys), gnomAD 4-145639225-ACT-A, CADD 20.60
- S31N (p.Ser31Asn), rs142126209, ClinGen CA3095121, ClinVar RCV001278250, ClinVar RCV002537788, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Methylmalonic aciduria, cblA type
- T32D (p.Thr32Asp), gnomAD 4-145639229-AAGTA, CADD 21.50
- T32I (p.Thr32Ile), gnomAD 4-145639234-C-T, REVEL 0.19, ESM-1b 0.00
- H33L (p.His33Leu), gnomAD 4-145639236-CA-C, CADD 16.00
- H33P (p.His33Pro), gnomAD 4-145639237-A-C, REVEL 0.12, ESM-1b 0.00
- L34V (p.Leu34Val), cosmic curated COSV55581, ESM-1b 0.00, AlphaMissense 0.07
- L34L (p.Leu34Leu), rs146372922, gnomAD 4-145639241-C-T, CADD 0.35
- G35R (p.Gly35Arg), TOPMed rs1408339591, gnomAD rs1408339591, REVEL 0.12, ESM-1b 0.00
- S36* (p.Ser36Ter), gnomAD rs1432231626, CADD 32.00
- S36S (p.Ser36Ser), rs1727708181, gnomAD 4-145639247-A-G, CADD 3.67
- I38T (p.Ile38Thr), cosmic curated COSV10726, ESM-1b 0.00, AlphaMissense 0.11
- I38V (p.Ile38Val), ESP rs139395700, ExAC rs139395700, TOPMed rs139395700, gnomAD rs139395700, REVEL 0.21, ESM-1b 0.00
- P39L (p.Pro39Leu), ESP rs150065810, ExAC rs150065810, TOPMed rs150065810, gnomAD rs150065810, REVEL 0.12, ESM-1b 0.00
- P39Q (p.Pro39Gln), cosmic curated COSV55581, ESP rs150065810, ExAC rs150065810, TOPMed rs150065810, REVEL 0.29, ESM-1b 0.00
- P39R (p.Pro39Arg), ESP rs150065810, ExAC rs150065810, TOPMed rs150065810, gnomAD rs150065810, ESM-1b 0.00, AlphaMissense 0.08
- C40R (p.Cys40Arg), ExAC rs745735153, TOPMed rs745735153, gnomAD rs745735153, REVEL 0.23, ESM-1b 0.00
- C40G (p.Cys40Gly), gnomAD 4-145639257-T-G, REVEL 0.24, ESM-1b 0.00
- C40Y (p.Cys40Tyr), gnomAD 4-145639258-G-A, REVEL 0.21, ESM-1b 0.00
- A41S (p.Ala41Ser), cosmic curated COSV99850, ESM-1b 0.00, AlphaMissense 0.07
- A41V (p.Ala41Val), rs1307377428, NCI-TCGA Cosmic COSV5557, cosmic curated COSV55579, gnomAD rs1307377428, REVEL 0.14, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- Q42* (p.Gln42Ter), rs758345818, ClinGen CA358351519, ClinVar RCV000669805, ExAC rs758345818, CADD 25.70, Pathogenic
- Q42E (p.Gln42Glu), rs758345818, ClinGen CA3095126, ClinVar RCV000670989, ExAC rs758345818, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- Q42K (p.Gln42Lys), ExAC rs758345818, gnomAD rs758345818, ESM-1b 0.00, AlphaMissense 0.07, Pathogenic
- Q42L (p.Gln42Leu), cosmic curated COSV55581, ESM-1b 0.00, AlphaMissense 0.08
- Q42Q (p.Gln42Gln), rs1727708827, gnomAD 4-145639265-G-A, CADD 0.75
- P43L (p.Pro43Leu), rs886059088, ClinGen CA10617102, NCI-TCGA Cosmic COSV5558, cosmic curated COSV55582, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Methylmalonic aciduria, cblA type
- P43S (p.Pro43Ser), gnomAD rs1444473515, REVEL 0.14, ESM-1b 0.00
- P43P (p.Pro43Pro), rs779779664, gnomAD 4-145639268-G-A, CADD 0.25
- F44L (p.Phe44Leu), ExAC rs746489522, gnomAD rs746489522, REVEL 0.09, ESM-1b 0.00
- F44C (p.Phe44Cys), gnomAD 4-145639270-T-G, REVEL 0.42, ESM-1b 0.00
- N45T (p.Asn45Thr), cosmic curated COSV55580, ESM-1b 0.00, AlphaMissense 0.07
- N45L (p.Asn45Leu), gnomAD 4-145639269-TTTAA, CADD 16.40
- S46Y (p.Ser46Tyr), cosmic curated COSV10801, 1000Genomes rs543412068, ExAC rs543412068, gnomAD rs543412068, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S46F (p.Ser46Phe), gnomAD 4-145639276-C-T, REVEL 0.24, ESM-1b 0.00
- S46S (p.Ser46Ser), rs34702224, gnomAD 4-145639277-T-C, CADD 3.49
- L47P (p.Leu47Pro), TOPMed rs1727710015, REVEL 0.37, ESM-1b 0.00
- L47V (p.Leu47Val), gnomAD rs1204836039, REVEL 0.28, ESM-1b 0.00
- L47L (p.Leu47Leu), rs1302639197, gnomAD 4-145639280-T-C, CADD 4.00
- G48G (p.Gly48Gly), rs1273110977, gnomAD 4-145639283-A-T, CADD 7.76
- L49F (p.Leu49Phe), TOPMed rs991910272, gnomAD rs991910272, REVEL 0.14, ESM-1b 0.00
- L49V (p.Leu49Val), TOPMed rs991910272, gnomAD rs991910272, REVEL 0.10, ESM-1b 0.00
- L49H (p.Leu49His), gnomAD 4-145639285-T-A, REVEL 0.17, ESM-1b 0.00
- L49L (p.Leu49Leu), gnomAD 4-145639286-C-A, CADD 4.64
- H50R (p.His50Arg), cosmic curated COSV10726, ESM-1b 0.00, AlphaMissense 0.06
- H50H (p.His50His), rs2126617181, gnomAD 4-145639289-T-C, CADD 5.09
- C51A (p.Cys51Ala), rs2546335284, ClinGen CA358350954, ClinVar RCV003131595, ClinVar RCV006363413, Uncertain significance
- C51R (p.Cys51Arg), ExAC rs748557981, gnomAD rs748557981, REVEL 0.23, ESM-1b 0.00
- C51W (p.Cys51Trp), ExAC rs773779122, gnomAD rs773779122, REVEL 0.41, ESM-1b 0.00
- C51Y (p.Cys51Tyr), ExAC rs769983308, gnomAD rs769983308, REVEL 0.24, ESM-1b 0.00
- C51F (p.Cys51Phe), gnomAD 4-145639291-G-T, REVEL 0.28, ESM-1b 0.00
- T52A (p.Thr52Ala), gnomAD 4-145639293-A-G, REVEL 0.21, ESM-1b 0.00
- T52T (p.Thr52Thr), rs1727711363, gnomAD 4-145639295-A-G, CADD 8.63
- K53R (p.Lys53Arg), gnomAD 4-145639297-A-G, REVEL 0.17, ESM-1b 0.00
- K53K (p.Lys53Lys), rs1191388669, gnomAD 4-145639298-G-A, CADD 8.30
- W54* (p.Trp54Ter), rs864309725, ClinGen CA347884, ClinVar RCV000203357, TOPMed rs864309725, CADD 35.00, Pathogenic
- M55I (p.Met55Ile), ExAC rs763425453, ESM-1b 0.00, AlphaMissense 0.16
- M55V (p.Met55Val), TOPMed rs1727711832, gnomAD rs1727711832, REVEL 0.14, ESM-1b 0.00
- L56P (p.Leu56Pro), Ensembl rs1727712489, REVEL 0.59, ESM-1b 0.00
- L56L (p.Leu56Leu), rs2126617212, gnomAD 4-145639305-C-T, CADD 7.36
- D59G (p.Asp59Gly), gnomAD rs1371322650, REVEL 0.13, ESM-1b 0.00
- D59H (p.Asp59His), rs371779800, ClinGen CA3095136, ClinVar RCV000820945, ESP rs371779800, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- D59D (p.Asp59Asp), rs1727713075, gnomAD 4-145639316-T-C, CADD 5.35
- G60S (p.Gly60Ser), Ensembl rs2126617239, ESM-1b 0.00, AlphaMissense 0.07
- L61L (p.Leu61Leu), gnomAD 4-145639322-A-G, CADD 7.43
- L61F (p.Leu61Phe), gnomAD 4-145639322-A-C, REVEL 0.14, ESM-1b 0.00
- K62E (p.Lys62Glu), gnomAD rs1167663893, REVEL 0.22, ESM-1b 0.00
- K62R (p.Lys62Arg), rs1417362612, ClinGen CA358352013, ClinVar RCV003086121, TOPMed rs1417362612, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- K62N (p.Lys62Asn), gnomAD 4-145639325-G-T, REVEL 0.18, ESM-1b 0.00
- R63G (p.Arg63Gly), ExAC rs774453661, gnomAD rs774453661, REVEL 0.69, ESM-1b 0.46, Uncertain significance, Methylmalonic aciduria, cblA type
- R63K (p.Arg63Lys), NCI-TCGA Cosmic COSV5557, cosmic curated COSV55579, REVEL 0.31, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K64N (p.Lys64Asn), NCI-TCGA Cosmic COSV5558, cosmic curated COSV55582, REVEL 0.17, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K64Q (p.Lys64Gln), gnomAD 4-145639329-A-C, REVEL 0.20, ESM-1b 0.00
- L65F (p.Leu65Phe), Ensembl rs1578877586, REVEL 0.26, ESM-1b 0.00, Likely benign
- L65V (p.Leu65Val), NCI-TCGA Cosmic COSV9985, cosmic curated COSV99850, ESM-1b 0.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- L65del (p.Leu65del), rs758827870, gnomAD 4-145639330-AATT-, CADD 17.50
- L65L (p.Leu65Leu), gnomAD 4-145639334-A-G, CADD 8.78
- C66Y (p.Cys66Tyr), cosmic curated COSV10438, ESM-1b 0.09, AlphaMissense 0.10
- C66R (p.Cys66Arg), gnomAD 4-145639335-T-C, REVEL 0.61, ESM-1b 1.00
- C66C (p.Cys66Cys), gnomAD 4-145639337-T-C, CADD 12.70
- V67L (p.Val67Leu), ExAC rs759588632, gnomAD rs759588632, REVEL 0.20, ESM-1b 0.00
- V67I (p.Val67Ile), gnomAD 4-145639338-G-A, REVEL 0.22, ESM-1b 0.00
- Q68* (p.Gln68Ter), rs754894257, ClinGen CA107720165, ClinVar RCV000509034, Ensembl rs754894257, CADD 36.00, Pathogenic
- Q68Q (p.Gln68Gln), rs1727714117, gnomAD 4-145639343-A-G, CADD 3.88
- T69A (p.Thr69Ala), gnomAD rs1022928116, REVEL 0.20, ESM-1b 0.00
- T69I (p.Thr69Ile), gnomAD 4-145639345-C-T, REVEL 0.28, ESM-1b 0.00
- T69T (p.Thr69Thr), gnomAD 4-145639346-A-G, CADD 7.69
- T70A (p.Thr70Ala), gnomAD rs1328208245, REVEL 0.25, ESM-1b 0.00, Uncertain significance
- T70I (p.Thr70Ile), ExAC rs767748129, gnomAD rs767748129, REVEL 0.37, ESM-1b 0.00
- T70P (p.Thr70Pro), rs1328208245, ClinGen CA358352179, ClinVar RCV001278251, gnomAD rs1328208245, REVEL 0.54, ESM-1b 0.00, Uncertain significance, Methylmalonic aciduria, cblA type
- T70N (p.Thr70Asn), gnomAD 4-145639348-C-A, REVEL 0.39, ESM-1b 0.00
- L71L (p.Leu71Leu), rs1411890697, gnomAD 4-145639352-A-G, CADD 7.79
- K72R (p.Lys72Arg), TOPMed rs1385248717, ESM-1b 0.00, AlphaMissense 0.07
- K72T (p.Lys72Thr), gnomAD 4-145639351-TAAAG, CADD 26.00
- K72K (p.Lys72Lys), rs1228207607, gnomAD 4-145639355-G-A, CADD 9.26
- D73N (p.Asp73Asn), TOPMed rs1268784552, gnomAD rs1268784552, REVEL 0.13, ESM-1b 0.00
- D73V (p.Asp73Val), gnomAD rs1342138127, REVEL 0.17, ESM-1b 0.00
- H74R (p.His74Arg), gnomAD 4-145639360-A-G, REVEL 0.26, ESM-1b 0.00
- T75I (p.Thr75Ile), Ensembl rs2126617317, ESM-1b 0.00, AlphaMissense 0.08
- T75T (p.Thr75Thr), gnomAD 4-145639364-A-G, CADD 4.80
- L78F (p.Leu78Phe), NCI-TCGA Cosmic COSV5557, cosmic curated COSV55579, ESM-1b 0.30, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- S79P (p.Ser79Pro), ExAC rs752876551, gnomAD rs752876551, REVEL 0.47, ESM-1b 0.52, Likely pathogenic, Methylmalonic aciduria, cblA type
- K81E (p.Lys81Glu), TOPMed rs1289736242, gnomAD rs1289736242, REVEL 0.33, ESM-1b 0.00
- K81Q (p.Lys81Gln), TOPMed rs1289736242, gnomAD rs1289736242, ESM-1b 0.00, AlphaMissense 0.10
- K81R (p.Lys81Arg), 1000Genomes rs532407633, ExAC rs532407633, TOPMed rs532407633, gnomAD rs532407633, REVEL 0.27, ESM-1b 0.00
- K81T (p.Lys81Thr), 1000Genomes rs532407633, ExAC rs532407633, TOPMed rs532407633, gnomAD rs532407633, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E82G (p.Glu82Gly), TOPMed rs1727716308, gnomAD rs1727716308, REVEL 0.53, ESM-1b 1.00
- E82E (p.Glu82Glu), rs750230122, gnomAD 4-145639385-G-A, CADD 7.53
- Q83E (p.Gln83Glu), Ensembl rs1727716552, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- Q83K (p.Gln83Lys), rs1727716552, ClinGen CA358352494, ClinVar RCV003309116, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Inborn genetic diseases
- Q83P (p.Gln83Pro), gnomAD 4-145639387-A-C, REVEL 0.55, ESM-1b 1.00
- R84I (p.Arg84Ile), TOPMed rs1254511485, gnomAD rs1254511485, REVEL 0.49, ESM-1b 0.00, Uncertain significance
- R84K (p.Arg84Lys), cosmic curated COSV11380, TOPMed rs1254511485, gnomAD rs1254511485, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R84S (p.Arg84Ser), cosmic curated COSV55581, ESM-1b 0.00, AlphaMissense 0.19
- F85S (p.Phe85Ser), ESP rs372082521, TOPMed rs372082521, gnomAD rs372082521, REVEL 0.24, ESM-1b 0.00
- F85Y (p.Phe85Tyr), ESP rs372082521, TOPMed rs372082521, gnomAD rs372082521, REVEL 0.18, ESM-1b 0.00
- F85V (p.Phe85Val), gnomAD 4-145639392-T-G, REVEL 0.24, ESM-1b 0.00
- F85L (p.Phe85Leu), gnomAD 4-145639392-T-C, REVEL 0.21, ESM-1b 0.00
- V86M (p.Val86Met), TOPMed rs1187767870, gnomAD rs1187767870, REVEL 0.48, ESM-1b 1.00
- V86V (p.Val86Val), rs1240108337, gnomAD 4-145639397-G-A, CADD 9.61
Public MMAA analysis runs
- MMAA analysis run — MMAA (799 variants) — completed 2026-10-09