MFN2 (Mitofusin-2) variants and mutations
MFN2 (also known as Mitofusin-2) is a human protein-coding gene encoding a mitofusin-2 protein. It promotes outer-mitochondrial-membrane fusion and coordinates mitochondrial transport, distribution, and contacts with other organelles. Pathogenic variants are a major cause of Charcot-Marie-Tooth disease type 2A and related axonal neuropathies. This analysis covers 1,317 MFN2 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b, and neuropathy, hereditary motor and sensory, type 6A. Example MFN2 variants include M1V, S2F, and L3M.
Variant analysis overview
- Gene: MFN2
- Protein: Mitofusin-2
- UniProt accession: O95140
- Organism: Homo sapiens
- Variants analyzed: 1317
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 1,154 unspecified-consequence records; 57 missense variants; 83 synonymous variants; 2 in-frame deletions; 10 frameshift variants; 1 in-frame insertions; 1 stop-gained variants; 2 splice-region variants; 7 substitution
- Prediction scores: 1,023 variants have prediction scores (78% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b, neuropathy, hereditary motor and sensory, type 6A, Autosomal dominant Charcot-Marie-Tooth disease type 2A2, multiple symmetric lipomatosis, hereditary motor and sensory neuropathy type 6, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, hereditary disease, severe early-onset axonal neuropathy due to MFN2 deficiency, axonal neuropathy, Distal muscle weakness.
Protein structure and variant hotspots
- Protein features: 2 transmembrane segments; 1 domains; 4 binding sites; 2 post-translational modification sites.
- Structural context: 528 variants have structural context.
- 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.
Notable MFN2 variants
Examples include M1V, S2F, L3M, L3P, L4F, L4L, F5L, F5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs1557515730, ClinGen CA338459022, ClinVar RCV000711272, MetaLR 0.93, MetaSVM 1.01, Uncertain significance, not provided
- S2F (p.Ser2Phe), ExAC rs758996830, TOPMed rs758996830, gnomAD rs758996830, REVEL 0.51, CADD 24.20, Uncertain significance, Charcot-Marie-Tooth disease type 2
- L3M (p.Leu3Met), cosmic curated COSV52424
- L3P (p.Leu3Pro), gnomAD 1-11989176-T-C, REVEL 0.62, CADD 23.80
- L4F (p.Leu4Phe), rs764758724, ClinGen CA598721, ClinVar RCV002300468, ExAC rs764758724, REVEL 0.28, CADD 22.20, Uncertain significance, Charcot-Marie-Tooth disease type 2
- L4L (p.Leu4Leu), gnomAD 1-11989180-C-T, CADD 13.30
- F5L (p.Phe5Leu), TOPMed rs1222894986, gnomAD rs1222894986, REVEL 0.63, CADD 29.90
- F5V (p.Phe5Val), TOPMed rs1222894986, gnomAD rs1222894986
- S6F (p.Ser6Phe), cosmic curated COSV52424
- R7* (p.Arg7Ter), rs1557515779, ClinGen CA338459151, ClinVar RCV000986240, ClinVar RCV005056713, CADD 37.00, Pathogenic
- R7G (p.Arg7Gly), Ensembl rs1557515779, REVEL 0.55, CADD 23.60, Uncertain significance
- R7L (p.Arg7Leu), rs1296772735, ClinGen CA338459153, cosmic curated COSV52421, ClinVar RCV003036779, REVEL 0.67, CADD 25.60, Uncertain significance, Charcot-Marie-Tooth disease type 2
- R7Q (p.Arg7Gln), NCI-TCGA Cosmic COSV5242, NCI-TCGA Cosmic COSV9933, cosmic curated COSV99337, REVEL 0.52, CADD 23.70, Uncertain significance, Inborn genetic diseases
- C8R (p.Cys8Arg), rs1342700068, ClinGen CA338459162, ClinVar RCV000653895, gnomAD rs1342700068, REVEL 0.47, CADD 22.70, Uncertain significance, Charcot-Marie-Tooth disease type 2
- C8W (p.Cys8Trp), rs752363939, ClinGen CA598722, ClinVar RCV003060293, ClinVar RCV006269749, REVEL 0.49, CADD 22.20, Uncertain significance, not specified; Charcot-Marie-Tooth disease type 2
- C8Y (p.Cys8Tyr), TOPMed rs1366027878, gnomAD rs1366027878, REVEL 0.38, CADD 20.60
- N9N (p.Asn9Asn), rs1300158412, gnomAD 1-11989195-C-T, CADD 11.20
- S10C (p.Ser10Cys), rs757982521, ClinGen CA598723, ClinVar RCV001898841, ExAC rs757982521, REVEL 0.43, CADD 23.10, Uncertain significance, Charcot-Marie-Tooth disease type 2
- I11M (p.Ile11Met), ExAC rs756450319, TOPMed rs756450319, gnomAD rs756450319, REVEL 0.37, CADD 0.03, Likely benign
- I11S (p.Ile11Ser), rs777625403, ClinGen CA598725, ClinVar RCV000658490, ExAC rs777625403, REVEL 0.43, CADD 22.50, Uncertain significance, not provided
- I11T (p.Ile11Thr), rs777625403, ClinGen CA18035498, ClinVar RCV000794412, ExAC rs777625403, REVEL 0.35, CADD 19.90, Uncertain significance, Charcot-Marie-Tooth disease type 2
- I11V (p.Ile11Val), rs763735861, ClinGen CA598724, ClinVar RCV001204772, ClinVar RCV003482340, REVEL 0.33, CADD 14.40, Uncertain significance, Charcot-Marie-Tooth disease type 2; not provided
- I11L (p.Ile11Leu), gnomAD 1-11989199-A-C, REVEL 0.42, CADD 17.50
- I11I (p.Ile11Ile), rs756450319, gnomAD 1-11989201-C-T, CADD 1.78
- V12I (p.Val12Ile), rs367715413, ClinGen CA598728, ClinVar RCV000694545, ClinVar RCV002458249, REVEL 0.30, CADD 13.70, Uncertain significance, Inborn genetic diseases; Charcot-Marie-Tooth disease type 2
- V12L (p.Val12Leu), ESP rs367715413, ExAC rs367715413, TOPMed rs367715413, gnomAD rs367715413, REVEL 0.35, CADD 16.90, Uncertain significance
- V12A (p.Val12Ala), gnomAD 1-11989203-T-C, REVEL 0.42, CADD 18.00
- T13A (p.Thr13Ala), Ensembl rs1569802385, REVEL 0.22, CADD 7.10
- T13T (p.Thr13Thr), rs755024220, gnomAD 1-11989207-A-C, CADD 5.88
- V14V (p.Val14Val), gnomAD 1-11989210-C-A, CADD 11.30
- K15E (p.Lys15Glu), ExAC rs778984789, gnomAD rs778984789, REVEL 0.67, CADD 25.10
- K15N (p.Lys15Asn), NCI-TCGA Cosmic COSV9933, cosmic curated COSV99337, Variant assessed as somatic; moderate impact.
- K15R (p.Lys15Arg), Ensembl rs1638563410
- K16Q (p.Lys16Gln), rs748233037, ClinGen CA598731, ClinVar RCV001219302, ExAC rs748233037, REVEL 0.56, CADD 22.90, Uncertain significance, Charcot-Marie-Tooth disease type 2
- N17D (p.Asn17Asp), rs772477199, ClinGen CA598732, ClinVar RCV002155819, ExAC rs772477199, REVEL 0.39, CADD 20.80, Likely benign, Charcot-Marie-Tooth disease type 2
- N17S (p.Asn17Ser), TOPMed rs1638563796
- N17K (p.Asn17Lys), gnomAD 1-11989219-T-G, REVEL 0.33, CADD 14.20
- K18R (p.Lys18Arg), gnomAD 1-11989221-A-G, REVEL 0.39, CADD 22.40
- R19S (p.Arg19Ser), rs2522961692, ClinGen CA338459393, ClinVar RCV003821274, Uncertain significance, Charcot-Marie-Tooth disease type 2
- R19G (p.Arg19Gly), gnomAD 1-11989223-A-G, REVEL 0.68, CADD 24.00
- R19K (p.Arg19Lys), gnomAD 1-11989224-G-A, REVEL 0.44, CADD 22.70
- R19I (p.Arg19Ile), gnomAD 1-11989224-G-T, REVEL 0.67, CADD 25.10
- H20Y (p.His20Tyr), rs201715603, ClinGen CA321399, ClinVar RCV000342413, ClinVar RCV000556563, REVEL 0.75, CADD 17.50, Conflicting interpretations, Inborn genetic diseases; Charcot-Marie-Tooth disease; Optic atrophy
- H20N (p.His20Asn), gnomAD 1-11989226-C-A, REVEL 0.45, CADD 19.40
- M21V (p.Met21Val), rs1569802518, ClinGen CA338459417, ClinVar RCV000789400, Ensembl rs1569802518, REVEL 0.64, CADD 23.40, Uncertain significance, Charcot-Marie-Tooth disease
- M21L (p.Met21Leu), gnomAD 1-11989229-A-T, REVEL 0.62, CADD 23.70
- A22G (p.Ala22Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A22S (p.Ala22Ser), rs1178355950, ClinGen CA338459439, ClinVar RCV001302033, gnomAD rs1178355950, AlphaMissense 0.10, MetaLR 0.95, Uncertain significance, Charcot-Marie-Tooth disease type 2
- A22T (p.Ala22Thr), gnomAD rs1178355950, REVEL 0.65, AlphaMissense 0.10, Uncertain significance
- A22A (p.Ala22Ala), rs746838667, gnomAD 1-11989234-T-C, CADD 11.40
- E23E (p.Glu23Glu), gnomAD 1-11989237-G-A, CADD 7.75
- V24G (p.Val24Gly), gnomAD 1-11989239-T-G, REVEL 0.55, CADD 22.70
- V24V (p.Val24Val), rs138454088, gnomAD 1-11989240-G-T, CADD 11.00
- N25K (p.Asn25Lys), ExAC rs776459291, gnomAD rs776459291
- N25T (p.Asn25Thr), TOPMed rs1191273018
- N25N (p.Asn25Asn), rs776459291, gnomAD 1-11989243-T-C, CADD 9.45
- A26T (p.Ala26Thr), rs1362917966, gnomAD rs1362917966, AlphaMissense 0.08, MetaLR 0.29, Variant assessed as somatic; moderate impact.
- A26V (p.Ala26Val), gnomAD 1-11989245-C-T, REVEL 0.47, CADD 21.50
- A26A (p.Ala26Ala), rs764662159, gnomAD 1-11989246-A-G, CADD 8.10
- S27F (p.Ser27Phe), ExAC rs775052063, gnomAD rs775052063, REVEL 0.84, CADD 27.00
- S27S (p.Ser27Ser), gnomAD 1-11989249-C-A, CADD 10.20
- P28S (p.Pro28Ser), TOPMed rs1638566414
- P28P (p.Pro28Pro), rs554067157, gnomAD 1-11989252-A-C, CADD 2.29
- L29F (p.Leu29Phe), cosmic curated COSV10635
- L29P (p.Leu29Pro), NCI-TCGA Cosmic COSV9933, cosmic curated COSV99336, Variant assessed as somatic; moderate impact.
- L29L (p.Leu29Leu), gnomAD 1-11989255-T-G, CADD 10.60
- K30E (p.Lys30Glu), Ensembl rs1638566682
- K30R (p.Lys30Arg), gnomAD rs1303507580, REVEL 0.48, CADD 22.90
- H31Q (p.His31Gln), rs2522962020, ClinGen CA338459599, ClinVar RCV003582842, Uncertain significance, Charcot-Marie-Tooth disease type 2
- H31Y (p.His31Tyr), rs1553140991, ClinGen CA338459590, ClinVar RCV000557917, Ensembl rs1553140991, REVEL 0.66, CADD 22.60, Uncertain significance, Charcot-Marie-Tooth disease type 2
- T34A (p.Thr34Ala), cosmic curated COSV52424
- T34S (p.Thr34Ser), Ensembl rs1378983806, REVEL 0.46, CADD 17.70
- T34T (p.Thr34Thr), rs751183471, gnomAD 1-11989270-T-G, CADD 9.41
- A35D (p.Ala35Asp), gnomAD 1-11989272-C-A, REVEL 0.91, CADD 26.00
- A35A (p.Ala35Ala), rs1237939938, gnomAD 1-11989273-C-A, CADD 11.90
- K36N (p.Lys36Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K37E (p.Lys37Glu), gnomAD 1-11989277-A-G, REVEL 0.86, CADD 26.90
- K37K (p.Lys37Lys), gnomAD 1-11989279-G-A, CADD 10.70
- K38M (p.Lys38Met), rs1157741525, ClinGen CA338459704, ClinVar RCV002305177, TOPMed rs1157741525, REVEL 0.77, CADD 27.60, Uncertain significance, Charcot-Marie-Tooth disease type 2
- K38del (p.Lys38del), rs1478175861, gnomAD 1-11989273-CAAG-C, CADD 20.40
- K38E (p.Lys38Glu), gnomAD 1-11989280-A-G, REVEL 0.58, CADD 24.30
- I39M (p.Ile39Met), TOPMed rs1288073943, gnomAD rs1288073943, REVEL 0.81, CADD 23.80, Likely benign
- I39I (p.Ile39Ile), rs1288073943, gnomAD 1-11989285-C-A, CADD 10.40
- N40D (p.Asn40Asp), rs1026123951, ClinGen CA338459722, ClinVar RCV001302489, Ensembl rs1026123951, AlphaMissense 0.25, MetaLR 0.98, Uncertain significance, Charcot-Marie-Tooth disease type 2
- N40H (p.Asn40His), rs1026123951, ClinGen CA18035650, ClinVar RCV002247976, ClinVar RCV003093984, AlphaMissense 0.25, MetaLR 0.98, Uncertain significance, Charcot-Marie-Tooth disease type 2; not specified
- N40S (p.Asn40Ser), rs1354203259, ClinGen CA338459727, ClinVar RCV000729317, ClinVar RCV001862171, REVEL 0.46, CADD 19.80, Uncertain significance, not provided; Charcot-Marie-Tooth disease type 2
- G41D (p.Gly41Asp), rs2100802868, ClinGen CA338459742, ClinVar RCV001912540, Ensembl rs2100802868, AlphaMissense 0.53, MetaLR 0.88, Uncertain significance, Charcot-Marie-Tooth disease type 2
- F43C (p.Phe43Cys), rs2522962265, ClinGen CA338459781, ClinVar RCV002474426, Uncertain significance, not provided
- F43L (p.Phe43Leu), gnomAD 1-11989297-T-G, REVEL 0.75, CADD 22.70
- E44Q (p.Glu44Gln), cosmic curated COSV52423, gnomAD rs1638568886, REVEL 0.53, CADD 22.30, Uncertain significance, Charcot-Marie-Tooth disease type 2
- Q45R (p.Gln45Arg), rs1569802992, ClinGen CA338459844, ClinVar RCV000789372, Ensembl rs1569802992, AlphaMissense 0.49, MetaLR 0.37, Likely pathogenic, Charcot-Marie-Tooth disease type 2A2
- L46Q (p.Leu46Gln), TOPMed rs1638569452
- L46L (p.Leu46Leu), rs1638569139, gnomAD 1-11989304-C-T, CADD 10.20
- G47A (p.Gly47Ala), rs1263406133, ClinGen CA338459892, cosmic curated COSV99030, ClinVar RCV002008966, REVEL 0.37, CADD 18.40, Uncertain significance, Charcot-Marie-Tooth disease type 2
- G47R (p.Gly47Arg), Ensembl rs1638569609, REVEL 0.45, CADD 22.10
- G47V (p.Gly47Val), cosmic curated COSV52423
- G47G (p.Gly47Gly), gnomAD 1-11989309-G-A, CADD 7.72
- A48D (p.Ala48Asp), cosmic curated COSV52425
- A48S (p.Ala48Ser), cosmic curated COSV52422
- A48T (p.Ala48Thr), rs766706650, ClinGen CA598743, ClinVar RCV002298346, ExAC rs766706650, REVEL 0.39, CADD 22.30, Uncertain significance, Charcot-Marie-Tooth disease type 2
- Y49C (p.Tyr49Cys), ExAC rs754303535, TOPMed rs754303535, gnomAD rs754303535, REVEL 0.95, CADD 28.20
- Y49D (p.Tyr49Asp), rs2100802936, ClinGen CA338459932, ClinVar RCV002030623, ClinVar RCV005057884, AlphaMissense 0.96, MetaLR 0.98, Conflicting interpretations, not provided; Inborn genetic diseases; Charcot-Marie-Tooth disease type 2
- Y49S (p.Tyr49Ser), gnomAD 1-11989314-A-C, REVEL 0.94, MetaLR 0.98
- Y49Y (p.Tyr49Tyr), rs755575773, gnomAD 1-11989315-C-T, CADD 6.71
- I50I (p.Ile50Ile), rs78841746, gnomAD 1-11989318-C-A, CADD 9.16
- I50M (p.Ile50Met), gnomAD 1-11989318-C-G, REVEL 0.65, MetaLR 0.94
- Q51H (p.Gln51His), rs886045219, ClinGen CA10607971, ClinVar RCV000346922, ClinVar RCV000391632, AlphaMissense 0.13, MetaLR 0.87, Uncertain significance, Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with
- E52K (p.Glu52Lys), rs1553141017, ClinGen CA338460007, NCI-TCGA Cosmic COSV5242, cosmic curated COSV52421, AlphaMissense 0.89, MetaLR 0.97, Likely pathogenic, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b
- S53G (p.Ser53Gly), Ensembl rs1569803209
- S53N (p.Ser53Asn), ExAC rs748283840, gnomAD rs748283840
- S53R (p.Ser53Arg), rs61733200, ClinGen CA338460073, ClinVar RCV001174310, ClinVar RCV005641967, REVEL 0.63, CADD 8.47, Uncertain significance, not provided; Charcot-Marie-Tooth disease
- p.Ser53 Ala54insLeuAsp, rs1557516120, gnomAD 1-11989327-C-CCTG, CADD 17.30
- S53S (p.Ser53Ser), rs61733200, gnomAD 1-11989327-C-T, CADD 0.72
- A54T (p.Ala54Thr), rs61733203, ClinGen CA323379, ClinVar RCV000653842, ClinVar RCV001257246, REVEL 0.39, CADD 16.60, Conflicting interpretations, Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not provided
- A54V (p.Ala54Val), rs747176196, ClinGen CA598747, ClinVar RCV003028802, ExAC rs747176196, REVEL 0.38, CADD 18.80, Uncertain significance, Charcot-Marie-Tooth disease type 2
- A54R (p.Ala54Arg), rs1557516104, gnomAD 1-11989325-A-AGTA, CADD 32.00
- A54A (p.Ala54Ala), rs770648317, gnomAD 1-11989330-C-T, CADD 8.20
- T55S (p.Thr55Ser), rs776423551, ClinGen CA598749, ClinVar RCV000534867, ClinVar RCV000711271, REVEL 0.24, CADD 9.68, Uncertain significance, Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic diseases
- T55F (p.Thr55Phe), rs1557516145, gnomAD 1-11989329-C-CCTT, CADD 26.00
- T55T (p.Thr55Thr), rs77458527, gnomAD 1-11989333-C-T, CADD 7.50
- F56F (p.Phe56Phe), rs769831339, gnomAD 1-11989336-C-T, CADD 10.20
- L57P (p.Leu57Pro), cosmic curated COSV10458
- E58K (p.Glu58Lys), gnomAD 1-11989340-G-A, REVEL 0.55, MetaLR 0.93
- D59N (p.Asp59Asn), TOPMed rs1311434220, gnomAD rs1311434220, Uncertain significance
- D59Y (p.Asp59Tyr), rs1311434220, ClinGen CA338460247, ClinVar RCV000796483, TOPMed rs1311434220, REVEL 0.61, CADD 33.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- T60M (p.Thr60Met), rs138345244, ClinGen CA598770, cosmic curated COSV10876, ClinVar RCV000236416, REVEL 0.71, CADD 24.00, Conflicting interpretations, Hereditary motor and sensory neuropathy with optic atrophy; Inborn genetic disea
- T60R (p.Thr60Arg), 1000Genomes rs138345244, ESP rs138345244, ExAC rs138345244, TOPMed rs138345244, Benign
- T60T (p.Thr60Thr), rs776601428, gnomAD 1-11992559-G-A, CADD 9.04
- Y61* (p.Tyr61Ter), cosmic curated COSV52421
- Y61Y (p.Tyr61Tyr), rs1638734576, gnomAD 1-11992562-C-T, CADD 10.20
- R62G (p.Arg62Gly), ExAC rs773916548, gnomAD rs773916548, REVEL 0.41, CADD 21.20
- R62R (p.Arg62Arg), gnomAD 1-11992565-G-A, CADD 12.40
- N63H (p.Asn63His), rs761216583, ClinGen CA598773, ClinVar RCV000472936, ClinVar RCV000516499, REVEL 0.59, CADD 24.30, Uncertain significance, Charcot-Marie-Tooth disease type 2A2; not specified; not provided
- N63S (p.Asn63Ser), gnomAD 1-11992567-A-G, REVEL 0.47, MetaLR 0.93
- A64S (p.Ala64Ser), cosmic curated COSV10586
- A64T (p.Ala64Thr), rs922058129, ClinGen CA18038628, ClinVar RCV001929176, ClinVar RCV004720979, REVEL 0.31, CADD 22.00, Uncertain significance, not provided; Charcot-Marie-Tooth disease type 2
- E65* (p.Glu65Ter), rs1415276772, ClinGen CA338461581, cosmic curated COSV52425, ClinVar RCV000790046, AlphaMissense 0.11, MetaLR 0.95, Uncertain significance
- E65D (p.Glu65Asp), rs1297357606, ClinGen CA338461620, ClinVar RCV001885439, ClinVar RCV004734293, REVEL 0.52, CADD 14.40, Uncertain significance
- E65Q (p.Glu65Gln), gnomAD rs1415276772, Uncertain significance
- L66L (p.Leu66Leu), gnomAD 1-11992575-C-T, CADD 10.40
- D67D (p.Asp67Asp), rs1553141644, gnomAD 1-11992580-C-T, CADD 8.99
- P68S (p.Pro68Ser), cosmic curated COSV10509
- P68P (p.Pro68Pro), rs148399574, gnomAD 1-11992583-C-T, CADD 0.91
- V69F (p.Val69Phe), rs28940296, ClinGen CA252157, ClinVar RCV000002361, UniProt VAR 018607, AlphaMissense 0.08, MetaLR 0.89, Pathogenic, Charcot-Marie-Tooth disease type 2A2
- V69I (p.Val69Ile), rs28940296, ClinGen CA598775, ClinVar RCV001096145, ClinVar RCV001096146, REVEL 0.44, AlphaMissense 0.08, Conflicting interpretations, Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with
- T70I (p.Thr70Ile), Ensembl rs878985218, REVEL 0.49, CADD 19.30
- T70T (p.Thr70Thr), gnomAD 1-11992589-C-A, CADD 0.49
- T71A (p.Thr71Ala), rs548809273, ClinGen CA598777, ClinVar RCV000703199, 1000Genomes rs548809273, REVEL 0.52, CADD 22.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- E72G (p.Glu72Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E73* (p.Glu73Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E73D (p.Glu73Asp), gnomAD 1-11992598-A-C, REVEL 0.44, MetaLR 0.90
- Q74R (p.Gln74Arg), rs1569815882, ClinGen CA338461803, ClinVar RCV000789412, ClinVar RCV001091325, AlphaMissense 0.34, MetaLR 0.91, Conflicting interpretations, Charcot-Marie-Tooth disease type 2; not provided
- V75I (p.Val75Ile), rs2522984933, ClinGen CA338461817, ClinVar RCV002297474, REVEL 0.46, CADD 20.70, Uncertain significance, Charcot-Marie-Tooth disease type 2
- L76M (p.Leu76Met), gnomAD rs1218698482, REVEL 0.33, CADD 17.30
- L76P (p.Leu76Pro), rs28940293, ClinGen CA252148, ClinVar RCV000002358, ClinVar RCV000200837, REVEL 0.72, CADD 22.80, Pathogenic, Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic diseases
- L76R (p.Leu76Arg), rs28940293, ClinGen CA598778, ClinVar RCV000658491, ClinVar RCV001855377, REVEL 0.58, CADD 22.20, Uncertain significance, Charcot-Marie-Tooth disease type 2; not provided
- D77G (p.Asp77Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- D77Y (p.Asp77Tyr), gnomAD 1-11992608-G-T, REVEL 0.55, MetaLR 0.91
- D77D (p.Asp77Asp), rs763489927, gnomAD 1-11992610-C-T, CADD 0.50
- V78F (p.Val78Phe), ExAC rs764695837, TOPMed rs764695837, gnomAD rs764695837, Uncertain significance
- V78I (p.Val78Ile), rs764695837, ClinGen CA598780, cosmic curated COSV52422, ClinVar RCV001312062, REVEL 0.56, CADD 20.50, Uncertain significance, Charcot-Marie-Tooth disease type 2; not provided
- V78L (p.Val78Leu), gnomAD 1-11992611-G-C, REVEL 0.64, MetaLR 0.94
- K79R (p.Lys79Arg), rs1262941514, ClinGen CA338461885, cosmic curated COSV52424, ClinVar RCV000517521, REVEL 0.34, CADD 18.40, Uncertain significance, Charcot-Marie-Tooth disease type 2; Inborn genetic diseases; not specified
- G80A (p.Gly80Ala), rs139827903, ClinGen CA338461909, ClinVar RCV001345572, 1000Genomes rs139827903, REVEL 0.34, CADD 21.70, Uncertain significance, Charcot-Marie-Tooth disease type 2
- G80S (p.Gly80Ser), gnomAD rs1279715181, REVEL 0.36, CADD 21.60
- G80V (p.Gly80Val), rs139827903, ClinGen CA598781, ClinVar RCV000789374, ClinVar RCV001873221, REVEL 0.83, CADD 23.80, Conflicting interpretations, Charcot-Marie-Tooth disease type 2; not provided
- G80D (p.Gly80Asp), gnomAD 1-11992618-G-A, REVEL 0.54, MetaLR 0.75
- G80G (p.Gly80Gly), gnomAD 1-11992619-T-C, CADD 6.23
- Y81F (p.Tyr81Phe), TOPMed rs1638737706, REVEL 0.58, CADD 22.60
- L82L (p.Leu82Leu), rs1194973053, gnomAD 1-11992623-C-T, CADD 10.60
- S83C (p.Ser83Cys), rs372451582, ClinGen CA18038726, ClinVar RCV001221318, ClinVar RCV002269347, REVEL 0.50, CADD 22.60, Uncertain significance, Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not provided
- S83A (p.Ser83Ala), gnomAD 1-11992626-T-G, REVEL 0.18, MetaLR 0.61
- S83S (p.Ser83Ser), rs376317255, gnomAD 1-11992628-C-T, CADD 12.90
- K84E (p.Lys84Glu), rs1569816088, ClinGen CA338461978, ClinVar RCV000790037, Ensembl rs1569816088, AlphaMissense 0.58, MetaLR 0.89, Uncertain significance, Charcot-Marie-Tooth disease
- V85A (p.Val85Ala), rs1553141664, ClinGen CA338462020, ClinVar RCV000520186, Ensembl rs1553141664, AlphaMissense 0.65, MetaLR 0.91, Uncertain significance, not provided
- V85V (p.Val85Val), rs369618013, gnomAD 1-11992634-G-A, CADD 9.69
- R86K (p.Arg86Lys), cosmic curated COSV52420
- R86T (p.Arg86Thr), NCI-TCGA Cosmic COSV5242, Variant assessed as somatic; moderate impact.
- R86I (p.Arg86Ile), gnomAD 1-11992636-G-T, REVEL 0.36, MetaLR 0.73
- R86R (p.Arg86Arg), rs781518271, gnomAD 1-11992637-A-G, CADD 13.80
Public MFN2 analysis runs
- MFN2 analysis run — MFN2 (1,317 variants) — completed 2026-08-10