MLC1 (Membrane protein MLC1) variants and mutations
MLC1 (also known as Membrane protein MLC1) is a human protein-coding gene encoding a membrane protein. A multi-pass membrane protein found mainly in brain astrocytes. It may support transport at the blood-brain and brain-cerebrospinal-fluid barriers and helps astrocytes respond to osmotic changes, while MLC1 disruption causes megalencephalic leukoencephalopathy with subcortical cysts. This analysis covers 721 MLC1 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes congenital fiber-type disproportion myopathy, response to stimulus, and adverse effect. Example MLC1 variants include M1?, M1I, and T2P.
Variant analysis overview
- Gene: MLC1
- Protein: Membrane protein MLC1
- UniProt accession: Q15049
- Organism: Homo sapiens
- Variants analyzed: 721
- Variant scope: all variants
- Completed: 2026-06-09
Variant and mutation evidence
- Variant composition: 543 unspecified-consequence records; 12 frameshift variants; 1 stop lost; 45 synonymous variants; 109 missense variants; 4 splice-region variants; 3 stop-gained variants; 1 in-frame deletions; 3 substitution
- Prediction scores: 690 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital fiber-type disproportion myopathy, response to stimulus, adverse effect, head and neck squamous cell carcinoma, rheumatoid arthritis, neoplasm, Pain, oral squamous cell carcinoma, rhabdomyosarcoma, congenital myopathy, cholelithiasis, squamous cell carcinoma.
Protein structure and variant hotspots
- Protein features: 8 transmembrane segments; 2 post-translational modification sites.
- Structural context: 301 variants have structural context.
- PTM context: 2 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.
Notable MLC1 variants
Examples include M1?, M1I, T2P, Q3R, E4Q, P5A, P5L, F6C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV61117, cosmic curated COSV61116
- M1I (p.Met1Ile), rs1223992285, ClinGen CA412113007, ClinVar RCV003988741, ESM-1b 1.00, AlphaMissense 0.22, Likely pathogenic
- T2P (p.Thr2Pro), Ensembl rs1602071075, ESM-1b 0.00, AlphaMissense 0.07
- Q3R (p.Gln3Arg), Ensembl rs1602071046, ESM-1b 0.00, AlphaMissense 0.08
- E4Q (p.Glu4Gln), Ensembl rs2062243555, REVEL 0.44, ESM-1b 0.00
- P5A (p.Pro5Ala), cosmic curated COSV61117, ESM-1b 0.00, AlphaMissense 0.07
- P5L (p.Pro5Leu), Ensembl rs2146945488, ESM-1b 0.00, AlphaMissense 0.12
- F6C (p.Phe6Cys), TOPMed rs1335108678, gnomAD rs1335108678, ESM-1b 0.00, AlphaMissense 0.16
- F6L (p.Phe6Leu), TOPMed rs1326856466, gnomAD rs1326856466, ESM-1b 0.00, AlphaMissense 0.65
- E8K (p.Glu8Lys), cosmic curated COSV10514, ESM-1b 0.00, AlphaMissense 0.41
- L10Q (p.Leu10Gln), gnomAD rs1397370510, ESM-1b 0.00, AlphaMissense 0.28
- A11G (p.Ala11Gly), TOPMed rs1047758044, gnomAD rs1047758044, ESM-1b 0.00, AlphaMissense 0.08
- A11T (p.Ala11Thr), NCI-TCGA Cosmic COSV6111, cosmic curated COSV61115, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- Y12C (p.Tyr12Cys), 1000Genomes rs142192701, ESP rs142192701, ExAC rs142192701, TOPMed rs142192701, ESM-1b 0.00, AlphaMissense 0.46, Uncertain significance
- Y12H (p.Tyr12His), gnomAD rs1468469243, ESM-1b 0.00, AlphaMissense 0.83
- Y12S (p.Tyr12Ser), rs142192701, ClinGen CA10303700, ClinVar RCV000301579, ClinVar RCV005090547, ESM-1b 0.00, AlphaMissense 0.61, Uncertain significance
- D13E (p.Asp13Glu), gnomAD rs1177619974, ESM-1b 0.00, AlphaMissense 0.42
- D13N (p.Asp13Asn), cosmic curated COSV10813, ESM-1b 0.00, AlphaMissense 0.33
- R14G (p.Arg14Gly), rs370132302, ClinGen CA10303698, ClinVar RCV003071093, ESP rs370132302, ESM-1b 0.00, AlphaMissense 0.27, Uncertain significance
- R14Q (p.Arg14Gln), rs1362564136, ClinGen CA412112880, NCI-TCGA Cosmic COSV6111, cosmic curated COSV61116, ESM-1b 0.00, AlphaMissense 0.14, Uncertain significance
- R14W (p.Arg14Trp), rs370132302, ClinGen CA10303699, cosmic curated COSV61116, ClinVar RCV001867769, ESM-1b 0.00, AlphaMissense 0.27, Uncertain significance
- M15I (p.Met15Ile), ExAC rs753021568, TOPMed rs753021568, gnomAD rs753021568, ESM-1b 0.00, AlphaMissense 0.65
- M15V (p.Met15Val), ExAC rs756401742, gnomAD rs756401742, REVEL 0.28, ESM-1b 0.00
- P16S (p.Pro16Ser), TOPMed rs2062242480, REVEL 0.19, ESM-1b 0.00
- T17A (p.Thr17Ala), ExAC rs767473385, gnomAD rs767473385, ESM-1b 0.00, AlphaMissense 0.13
- T17M (p.Thr17Met), rs759692106, ClinGen CA10303694, cosmic curated COSV61116, ClinVar RCV002651908, ESM-1b 0.00, AlphaMissense 0.22, Uncertain significance
- E19A (p.Glu19Ala), cosmic curated COSV61116, ESM-1b 0.00, AlphaMissense 0.68
- E19Q (p.Glu19Gln), TOPMed rs2062242153, gnomAD rs2062242153, ESM-1b 0.00, AlphaMissense 0.51
- E19E (p.Glu19Glu), rs1049346643, gnomAD 2-210302510-C-T, CADD 9.77
- E19K (p.Glu19Lys), rs753537507, gnomAD 2-210302512-C-T, REVEL 0.60, ESM-1b 0.00
- R20G (p.Arg20Gly), 1000Genomes rs533294413, ExAC rs533294413, TOPMed rs533294413, gnomAD rs533294413, ESM-1b 0.00, AlphaMissense 0.28
- R20Q (p.Arg20Gln), rs766921234, ClinGen CA10303692, ClinVar RCV001278855, ExAC rs766921234, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance
- R20W (p.Arg20Trp), rs533294413, cosmic curated COSV10514, 1000Genomes rs533294413, ExAC rs533294413, ESM-1b 0.00, AlphaMissense 0.27, Variant assessed as somatic; moderate impact.
- R22Q (p.Arg22Gln), rs184241759, ClinGen CA10303690, ClinVar RCV000479932, ClinVar RCV000490481, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance
- R22W (p.Arg22Trp), rs202135704, ClinGen CA10303691, cosmic curated COSV61116, ClinVar RCV000513476, ESM-1b 0.00, AlphaMissense 0.23, Uncertain significance
- Q23* (p.Gln23Ter), rs1057517228, ClinGen CA16042032, ClinVar RCV000410294, ClinVar RCV003669145, Pathogenic
- D24A (p.Asp24Ala), Ensembl rs1602070648, ESM-1b 0.00, AlphaMissense 0.21
- D24E (p.Asp24Glu), ExAC rs770200030, gnomAD rs770200030, REVEL 0.37, ESM-1b 0.00
- P25R (p.Pro25Arg), rs886057625, ClinGen CA10654200, ClinVar RCV000666819, Ensembl rs886057625, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance
- P25T (p.Pro25Thr), cosmic curated COSV61115, Ensembl rs17852565, ESM-1b 0.00, AlphaMissense 0.06
- A26P (p.Ala26Pro), 1000Genomes rs201522059, ExAC rs201522059, TOPMed rs201522059, gnomAD rs201522059, ESM-1b 0.00, AlphaMissense 0.09, Likely benign
- A26S (p.Ala26Ser), 1000Genomes rs201522059, ExAC rs201522059, TOPMed rs201522059, gnomAD rs201522059, ESM-1b 0.00, AlphaMissense 0.08, Likely benign
- A26T (p.Ala26Thr), rs201522059, ClinGen CA10303686, ClinVar RCV000901502, ClinVar RCV001274277, ESM-1b 0.00, AlphaMissense 0.08, Likely benign, not specified; not provided
- S27I (p.Ser27Ile), TOPMed rs2062240853, ESM-1b 0.00, AlphaMissense 0.14
- Y28* (p.Tyr28Ter), rs1057516286, ClinGen CA16042031, ClinVar RCV000411151, TOPMed rs1057516286, Likely pathogenic
- D31E (p.Asp31Glu), 1000Genomes rs199625892, ESP rs199625892, ExAC rs199625892, TOPMed rs199625892, ESM-1b 0.00, AlphaMissense 0.18, Likely benign
- D31Y (p.Asp31Tyr), cosmic curated COSV10460, ESM-1b 0.00, AlphaMissense 0.22
- A32P (p.Ala32Pro), rs193115579, ClinGen CA325498026, ClinVar RCV000730243, 1000Genomes rs193115579, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, not provided
- A32T (p.Ala32Thr), rs193115579, ClinGen CA10303684, cosmic curated COSV61118, ClinVar RCV002967716, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, not provided
- A32V (p.Ala32Val), rs200382943, ClinGen CA10303683, cosmic curated COSV61116, ClinVar RCV000671823, ESM-1b 0.00, AlphaMissense 0.08, Conflicting interpretations, not provided; Megalencephalic leukoencephalopathy with subcortical cysts 1
- K33N (p.Lys33Asn), Ensembl rs2062240247, ESM-1b 0.00, AlphaMissense 0.47, Likely benign
- P34L (p.Pro34Leu), rs138094311, ClinGen CA10303682, cosmic curated COSV10028, ClinVar RCV002928346, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance
- S35N (p.Ser35Asn), cosmic curated COSV61117, ESM-1b 0.00, AlphaMissense 0.09
- D36A (p.Asp36Ala), Ensembl rs1602070407, ESM-1b 0.00, AlphaMissense 0.24
- D36E (p.Asp36Glu), cosmic curated COSV10732, TOPMed rs1487435691, ESM-1b 0.00, AlphaMissense 0.27
- D36G (p.Asp36Gly), cosmic curated COSV61116, ESM-1b 0.00, AlphaMissense 0.21
- D36N (p.Asp36Asn), rs748287655, ClinGen CA10303679, cosmic curated COSV61117, ClinVar RCV002620921, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance
- D36D (p.Asp36Asp), gnomAD 2-210302489-A-G, CADD 14.20
- Q38* (p.Gln38Ter), rs867165223, gnomAD 2-210302494-G-A, CADD 45.00
- Q38K (p.Gln38Lys), rs867165223, gnomAD 2-210302494-G-T, REVEL 0.44, ESM-1b 0.00
- Q38Q (p.Gln38Gln), rs368042681, gnomAD 2-210302495-C-T, CADD 8.49
- Q38E (p.Gln38Glu), gnomAD 2-210302497-G-C, REVEL 0.52, ESM-1b 0.00
- L39V (p.Leu39Val), cosmic curated COSV61119, REVEL 0.56, ESM-1b 0.00
- S40* (p.Ser40Ter), rs2033708755, ClinGen CA412112572, ClinVar RCV001969891, TOPMed rs2033708755, AlphaMissense 0.24, MetaLR 0.81, Pathogenic
- S40L (p.Ser40Leu), cosmic curated COSV61116, TOPMed rs2033708755, gnomAD rs2033708755, ESM-1b 0.00, AlphaMissense 0.13, Pathogenic
- S40W (p.Ser40Trp), TOPMed rs2033708755, gnomAD rs2033708755, REVEL 0.31, ESM-1b 0.00, Pathogenic
- R42K (p.Arg42Lys), cosmic curated COSV10514, ESM-1b 0.00, AlphaMissense 0.13
- R42T (p.Arg42Thr), TOPMed rs1442319800, gnomAD rs1442319800, ESM-1b 0.00, AlphaMissense 0.20
- L43Q (p.Leu43Gln), gnomAD rs2062239363, REVEL 0.65, ESM-1b 0.00
- P44H (p.Pro44His), ExAC rs754954583, TOPMed rs754954583, gnomAD rs754954583, ESM-1b 0.00, AlphaMissense 0.11
- P44L (p.Pro44Leu), cosmic curated COSV61118, ExAC rs754954583, TOPMed rs754954583, gnomAD rs754954583, ESM-1b 0.00, AlphaMissense 0.11
- P44S (p.Pro44Ser), TOPMed rs913644774, gnomAD rs913644774, ESM-1b 0.00, AlphaMissense 0.12
- P44T (p.Pro44Thr), TOPMed rs913644774, gnomAD rs913644774, ESM-1b 0.00, AlphaMissense 0.12
- P45H (p.Pro45His), cosmic curated COSV61118, ESM-1b 0.00, AlphaMissense 0.09
- P45L (p.Pro45Leu), cosmic curated COSV61117, ESM-1b 0.00, AlphaMissense 0.09
- P45S (p.Pro45Ser), NCI-TCGA Cosmic COSV6111, cosmic curated COSV61116, Ensembl rs2062239012, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- F47L (p.Phe47Leu), rs201406310, gnomAD 2-210302507-G-T, REVEL 0.41, ESM-1b 0.00
- S48C (p.Ser48Cys), gnomAD 2-210302505-G-C, REVEL 0.63, ESM-1b 0.00
- S48F (p.Ser48Phe), rs1310206920, gnomAD 2-210302505-G-A, REVEL 0.60, ESM-1b 0.00
- H49P (p.His49Pro), ExAC rs751660849, TOPMed rs751660849, gnomAD rs751660849, REVEL 0.36, ESM-1b 0.00
- K50K (p.Lys50Lys), gnomAD 2-210298517-C-T, CADD 12.60
- K50N (p.Lys50Asn), gnomAD 2-210298517-C-A, REVEL 0.34, ESM-1b 0.00
- K50E (p.Lys50Glu), rs758302123, gnomAD 2-210298558-T-C, REVEL 0.90, ESM-1b 0.00
- T51M (p.Thr51Met), rs1291047256, ClinGen CA412112341, ClinVar RCV001950024, gnomAD rs1291047256, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- W52* (p.Trp52Ter), rs1352146711, TOPMed rs1352146711, gnomAD rs1352146711, Variant assessed as somatic; high impact.
- F54S (p.Phe54Ser), TOPMed rs2062238116, ESM-1b 0.00, AlphaMissense 0.51
- F54L (p.Phe54Leu), gnomAD 2-210298547-A-C, REVEL 0.84, ESM-1b 0.00
- F54V (p.Phe54Val), rs1690216662, gnomAD 2-210298561-A-C, REVEL 0.79, ESM-1b 0.00
- F54I (p.Phe54Ile), gnomAD 2-210298561-A-T, REVEL 0.50, ESM-1b 0.00
- S55Y (p.Ser55Tyr), NCI-TCGA Cosmic COSV6111, cosmic curated COSV61116, ESM-1b 0.00, AlphaMissense 0.63, Variant assessed as somatic; moderate impact.
- V56A (p.Val56Ala), rs2062237937, ClinGen CA412112248, ClinVar RCV002725408, Ensembl rs2062237937, ESM-1b 0.00, AlphaMissense 0.21, Uncertain significance
- M58I (p.Met58Ile), ExAC rs762193214, TOPMed rs762193214, gnomAD rs762193214, ESM-1b 0.00, AlphaMissense 0.54
- M58L (p.Met58Leu), gnomAD rs1315970092, ESM-1b 0.00, AlphaMissense 0.19
- M58T (p.Met58Thr), ExAC rs765551035, gnomAD rs765551035, ESM-1b 0.00, AlphaMissense 0.20
- G59E (p.Gly59Glu), rs80358242, ClinGen CA340284, ClinVar RCV000004986, ClinVar RCV000293896, ESM-1b 0.72, AlphaMissense 0.97, Pathogenic, in MLC1
- S60=, rs1247310057, NCI-TCGA Cosmic COSV1002, Variant assessed as somatic; low impact.
- S60R (p.Ser60Arg), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10028, ESM-1b 1.00, AlphaMissense 0.98, Variant assessed as somatic; moderate impact.
- C61* (p.Cys61Ter), rs1436214826, ClinGen CA412111698, ClinVar RCV001258387, gnomAD rs1436214826, Pathogenic
- C61S (p.Cys61Ser), gnomAD rs1056395452, ESM-1b 0.00, AlphaMissense 0.30, Uncertain significance
- C61Y (p.Cys61Tyr), gnomAD rs1056395452, ESM-1b 0.00, AlphaMissense 0.71
- L61del (p.Leu61del), gnomAD 2-210298541-CAGG-, CADD 22.70
- L62L (p.Leu62Leu), gnomAD 2-210298541-C-A, CADD 14.00
- L62R (p.Leu62Arg), rs766723318, gnomAD 2-210298542-A-C, REVEL 0.94, ESM-1b 0.37
- L62V (p.Leu62Val), rs1436261970, gnomAD 2-210298543-G-C, REVEL 0.75, ESM-1b 0.00
- L62F (p.Leu62Phe), gnomAD 2-210298546-G-A, REVEL 0.11, ESM-1b 0.00
- L62S (p.Leu62Ser), gnomAD 2-210298546-GA-G, CADD 26.50
- T65S (p.Thr65Ser), TOPMed rs2062189335, REVEL 0.35, ESM-1b 0.00
- T65N (p.Thr65Asn), gnomAD 2-210298512-G-T, REVEL 0.11, ESM-1b 0.00
- T65P (p.Thr65Pro), gnomAD 2-210298513-T-G, REVEL 0.36, ESM-1b 0.00
- T65A (p.Thr65Ala), gnomAD 2-210298513-T-C, REVEL 0.12, ESM-1b 0.00
- T65* (p.Thr65Ter), rs1453679401, gnomAD 2-210298527-CCTGT, CADD 32.00
- T65T (p.Thr65Thr), gnomAD 2-210298529-T-C, CADD 12.90
- T65R (p.Thr65Arg), gnomAD 2-210298530-G-C, REVEL 0.35, ESM-1b 0.00
- T65I (p.Thr65Ile), rs1690216003, gnomAD 2-210298530-G-A, REVEL 0.25, ESM-1b 0.00
- S66L (p.Ser66Leu), ESP rs376812050, ExAC rs376812050, TOPMed rs376812050, gnomAD rs376812050, ESM-1b 0.00, AlphaMissense 0.33
- S66T (p.Ser66Thr), gnomAD rs1275358780, ESM-1b 0.00, AlphaMissense 0.15
- S66W (p.Ser66Trp), ESP rs376812050, ExAC rs376812050, TOPMed rs376812050, gnomAD rs376812050, ESM-1b 0.40, AlphaMissense 0.91
- G67G (p.Gly67Gly), rs1252605552, gnomAD 2-210298526-A-G, CADD 7.03
- G67S (p.Gly67Ser), rs11554011, gnomAD 2-210298528-C-T, REVEL 0.76, ESM-1b 0.00
- F68V (p.Phe68Val), cosmic curated COSV61116, ESM-1b 0.00, AlphaMissense 0.43
- F68F (p.Phe68Phe), gnomAD 2-210298538-A-G, CADD 12.80
- F68S (p.Phe68Ser), rs1033392367, gnomAD 2-210298539-A-G, REVEL 0.78, ESM-1b 0.00
- S69L (p.Ser69Leu), rs281875309, ClinGen CA219962, NCI-TCGA Cosmic COSV6111, cosmic curated COSV61116, ESM-1b 0.00, AlphaMissense 0.82, Pathogenic, in MLC1
- S69Y (p.Ser69Tyr), gnomAD 2-210298521-G-T, REVEL 0.25, ESM-1b 0.00
- L72P (p.Leu72Pro), TOPMed rs2062188724, ESM-1b 0.00, AlphaMissense 0.97
- G73E (p.Gly73Glu), rs1602063709, ClinGen CA412111628, ClinVar RCV000800745, ClinVar RCV003472364, ESM-1b 0.00, AlphaMissense 0.99, Pathogenic
- G73R (p.Gly73Arg), rs1729986593, TOPMed rs1729986593, ClinGen CA412111631, ClinVar RCV003560180, ESM-1b 0.00, AlphaMissense 0.99, Likely pathogenic
- G73D (p.Gly73Asp), rs1350412735, gnomAD 2-210298497-C-T, REVEL 0.58, ESM-1b 0.00
- G73A (p.Gly73Ala), rs1350412735, gnomAD 2-210298497-C-G, REVEL 0.21, ESM-1b 0.00
- G73C (p.Gly73Cys), rs199843326, gnomAD 2-210298498-C-A, REVEL 0.67, ESM-1b 0.00
- G73S (p.Gly73Ser), rs199843326, gnomAD 2-210298498-C-T, REVEL 0.54, ESM-1b 0.00
- N74D (p.Asn74Asp), TOPMed rs56886124, gnomAD rs56886124, ESM-1b 0.00, AlphaMissense 0.52
- N74I (p.Asn74Ile), TOPMed rs893997861, gnomAD rs893997861, ESM-1b 0.00, AlphaMissense 0.52
- N74K (p.Asn74Lys), ExAC rs759148867, TOPMed rs759148867, gnomAD rs759148867, REVEL 0.39, ESM-1b 0.00, Likely benign
- N74M (p.Asn74Met), gnomAD 2-210298460-AT-A, CADD 33.00
- N74N (p.Asn74Asn), rs145306902, gnomAD 2-210298460-A-G, CADD 11.50
- N74Y (p.Asn74Tyr), rs777771898, gnomAD 2-210298471-T-A, REVEL 0.93, ESM-1b 0.00
- V75M (p.Val75Met), rs148848827, ClinGen CA10303648, ClinVar RCV002985446, ESP rs148848827, ESM-1b 0.00, AlphaMissense 0.45, Uncertain significance
- V75V (p.Val75Val), rs1382039930, gnomAD 2-210298490-G-C, CADD 8.83
- V75I (p.Val75Ile), gnomAD 2-210298501-C-T, REVEL 0.28, ESM-1b 0.00
- P77A (p.Pro77Ala), rs1259479522, ClinGen CA412111605, ClinVar RCV002575701, TOPMed rs1259479522, ESM-1b 0.00, AlphaMissense 0.57, Uncertain significance
- P77L (p.Pro77Leu), rs145484765, ClinGen CA10303647, cosmic curated COSV10028, ClinVar RCV001336254, ESM-1b 0.00, AlphaMissense 0.73, Uncertain significance
- P77R (p.Pro77Arg), ESP rs145484765, ExAC rs145484765, TOPMed rs145484765, gnomAD rs145484765, ESM-1b 0.00, AlphaMissense 0.78, Uncertain significance
- A78D (p.Ala78Asp), gnomAD rs1465846856, ESM-1b 0.00, AlphaMissense 0.11
- A78G (p.Ala78Gly), gnomAD 2-210298482-G-C, REVEL 0.68, ESM-1b 0.00
- A78A (p.Ala78Ala), rs1690216301, gnomAD 2-210298550-T-G, CADD 3.39
- A78E (p.Ala78Glu), gnomAD 2-210298551-G-T, REVEL 0.82, ESM-1b 0.00
- A78P (p.Ala78Pro), rs1176348773, gnomAD 2-210298552-C-G, REVEL 0.92, ESM-1b 0.00
- E79K (p.Glu79Lys), rs1378938503, ClinGen CA412111595, ClinVar RCV000669265, ClinVar RCV003155268, ESM-1b 0.00, AlphaMissense 0.52, Uncertain significance
- E79V (p.Glu79Val), rs781219009, gnomAD 2-210294395-ACT-A, CADD 32.00
- E79D (p.Glu79Asp), gnomAD 2-210294396-C-A, REVEL 0.17, ESM-1b 0.00
- E79E (p.Glu79Glu), rs753507577, gnomAD 2-210294417-C-T, CADD 13.70
- E79A (p.Glu79Ala), gnomAD 2-210298422-T-G, REVEL 0.62, ESM-1b 0.00
- E79G (p.Glu79Gly), gnomAD 2-210298455-T-C, REVEL 0.77, ESM-1b 0.00
- E79R (p.Glu79Arg), rs1334058857, gnomAD 2-210298455-TC-T, CADD 32.00
- M80I (p.Met80Ile), rs281875310, ClinGen CA219963, ClinVar RCV000059742, ClinVar RCV001810419, ESM-1b 0.00, AlphaMissense 0.98, Pathogenic, in MLC1
- M80T (p.Met80Thr), gnomAD 2-210294376-A-G, REVEL 0.91, ESM-1b 0.00
- M80V (p.Met80Val), rs751799521, gnomAD 2-210294377-T-C, REVEL 0.87, ESM-1b 0.00
- D81G (p.Asp81Gly), gnomAD rs1174014559, ESM-1b 0.00, AlphaMissense 0.82
- D81H (p.Asp81His), ESP rs140759469, ExAC rs140759469, TOPMed rs140759469, gnomAD rs140759469, ESM-1b 0.00, AlphaMissense 0.97
- D81N (p.Asp81Asn), ESP rs140759469, ExAC rs140759469, TOPMed rs140759469, gnomAD rs140759469, ESM-1b 0.00, AlphaMissense 0.80
- D81Y (p.Asp81Tyr), ESP rs140759469, ExAC rs140759469, TOPMed rs140759469, gnomAD rs140759469, ESM-1b 0.00, AlphaMissense 0.93
- D81E (p.Asp81Glu), rs143274393, gnomAD 2-210298493-A-T, REVEL 0.26, ESM-1b 0.00
- D81D (p.Asp81Asp), rs143274393, gnomAD 2-210298493-A-G, CADD 11.30
- Y82* (p.Tyr82Ter), ESP rs373531536, ExAC rs373531536, TOPMed rs373531536, gnomAD rs373531536, Likely benign
- Y82C (p.Tyr82Cys), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.92, Variant assessed as somatic; moderate impact.
- Y82Y (p.Tyr82Tyr), rs1467579261, gnomAD 2-210294336-A-G, CADD 8.78
- Y82H (p.Tyr82His), rs1690138016, gnomAD 2-210294338-A-G, REVEL 0.42, ESM-1b 0.00
- L83F (p.Leu83Phe), rs1289520784, ClinGen CA412111559, ClinVar RCV001506968, ClinVar RCV002564186, ESM-1b 0.00, AlphaMissense 0.92, Likely pathogenic
- L83M (p.Leu83Met), rs2518358338, ClinGen CA412111565, ClinVar RCV003579642, ESM-1b 0.00, AlphaMissense 0.72, Uncertain significance
- L83W (p.Leu83Trp), TOPMed rs1360582926, gnomAD rs1360582926, ESM-1b 0.00, AlphaMissense 0.98
- L83L (p.Leu83Leu), gnomAD 2-210298439-C-T, CADD 11.70
- L83R (p.Leu83Arg), rs1210353436, gnomAD 2-210298440-A-C, REVEL 0.93, ESM-1b 0.43
- R84C (p.Arg84Cys), rs281875311, ClinGen CA219964, ClinVar RCV000059743, ClinVar RCV001831812, ESM-1b 0.00, AlphaMissense 0.98, Pathogenic, in MLC1
- R84H (p.Arg84His), rs1425784992, ClinGen CA412111556, ClinVar RCV001806844, ClinVar RCV001885261, ESM-1b 0.00, AlphaMissense 0.79, Pathogenic, in MLC1
- R84L (p.Arg84Leu), TOPMed rs1425784992, gnomAD rs1425784992, ESM-1b 0.00, AlphaMissense 0.86, Pathogenic, in MLC1
- R84S (p.Arg84Ser), TOPMed rs281875311, ESM-1b 0.00, AlphaMissense 0.97, Likely pathogenic, in MLC1
- R84R (p.Arg84Arg), rs750680519, gnomAD 2-210298448-C-T, CADD 13.50
- R84G (p.Arg84Gly), rs1189855706, gnomAD 2-210298450-T-C, REVEL 0.20, ESM-1b 0.00
- R84Q (p.Arg84Gln), rs141590730, gnomAD 2-210298485-C-T, REVEL 0.79, ESM-1b 0.00
Public MLC1 analysis runs
- MLC1 analysis run — MLC1 (721 variants) — completed 2026-06-09