GJA1 (Gap junction alpha-1 protein) variants and mutations
GJA1 (also known as Gap junction alpha-1 protein) is a human protein-coding gene encoding a gap junction alpha-1 protein. It forms connexin 43 gap junctions that permit direct electrical and metabolic communication between neighboring cells in heart, bone, skin, and many other tissues. Pathogenic variants cause oculodentodigital dysplasia and related syndromes with craniofacial, dental, limb, and sometimes cardiac abnormalities. This analysis covers 819 GJA1 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes oculodentodigital dysplasia, erythrokeratodermia variabilis, and oculodentodigital dysplasia, autosomal recessive. Example GJA1 variants include M1?, G2V, and G2G.
Variant analysis overview
- Gene: GJA1
- Protein: Gap junction alpha-1 protein
- UniProt accession: P17302
- Organism: Homo sapiens
- Variants analyzed: 819
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 474 unspecified-consequence records; 188 synonymous variants; 118 missense variants; 6 stop-gained variants; 21 frameshift variants; 5 in-frame deletions; 1 protein altering variant; 1 in-frame insertions; 5 substitution
- Prediction scores: 741 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: oculodentodigital dysplasia, erythrokeratodermia variabilis, oculodentodigital dysplasia, autosomal recessive, autosomal dominant palmoplantar keratoderma and congenital alopecia, syndactyly type 3, craniometaphyseal dysplasia, autosomal recessive, hypoplastic left heart syndrome 1, Hallermann-Streiff syndrome, craniometaphyseal dysplasia, familial atrioventricular septal defect, hypoplastic left heart syndrome, hereditary disease.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 19 post-translational modification sites.
- Structural context: 159 variants have structural context.
- PTM context: 45 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 GJA1 variants
Examples include M1?, G2V, G2G, D3G, D3Y, W4*, S5R, S5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, NCI-TCGA Cosmic COSV5699, Variant assessed as somatic; high impact.
- G2V (p.Gly2Val), UniProt VAR 058990, MetaLR 0.96, MetaSVM 1.11, Pathogenic, in ODDD
- G2G (p.Gly2Gly), rs750778613, gnomAD 6-121446853-T-C, CADD 11.80
- D3G (p.Asp3Gly), NCI-TCGA TCGA novel, MetaLR 0.95, MetaSVM 1.10, Variant assessed as somatic; moderate impact.
- D3Y (p.Asp3Tyr), gnomAD 6-121446854-G-T, REVEL 0.83, MetaLR 0.98
- W4* (p.Trp4Ter), gnomAD 6-121446858-G-A, CADD 37.00
- S5R (p.Ser5Arg), gnomAD 6-121446862-C-A, REVEL 0.78, MetaLR 0.94
- S5S (p.Ser5Ser), rs758641783, gnomAD 6-121446862-C-T, CADD 7.14
- A6T (p.Ala6Thr), rs1169527421, NCI-TCGA Cosmic COSV5699, gnomAD rs1169527421, REVEL 0.62, MetaLR 0.93, Variant assessed as somatic; moderate impact.
- A6A (p.Ala6Ala), rs200520137, gnomAD 6-121446865-C-T, CADD 12.50
- L7V (p.Leu7Val), UniProt VAR 058991, MetaLR 0.98, MetaSVM 1.09, Pathogenic, in ODDD
- G8V (p.Gly8Val), rs864309644, ClinGen CA278750, ClinVar RCV000185623, UniProt VAR 075754, AlphaMissense 0.92, MetaLR 0.97, Pathogenic, Autosomal dominant palmoplantar keratoderma and congenital alopecia
- L10L (p.Leu10Leu), gnomAD 6-121446877-C-G, CADD 9.49
- L11F (p.Leu11Phe), rs387906616, ClinGen CA128546, NCI-TCGA Cosmic COSV9924, ClinVar RCV000022517, AlphaMissense 0.98, MetaLR 0.99, Pathogenic, Oculodentodigital dysplasia
- L11H (p.Leu11His), rs121912969, ClinGen CA365557771, ClinVar RCV003518063, AlphaMissense 0.99, MetaLR 0.99, Pathogenic, Oculodentodigital dysplasia, autosomal recessive
- L11I (p.Leu11Ile), UniProt VAR 078238, Pathogenic, in ODDD
- L11P (p.Leu11Pro), rs121912969, ClinGen CA127016, ClinVar RCV000018516, UniProt VAR 058992, AlphaMissense 0.99, MetaLR 0.99, Pathogenic, Oculodentodigital dysplasia
- D12T (p.Asp12Thr), gnomAD 6-121446880-TG-T, CADD 31.00
- D12E (p.Asp12Glu), gnomAD 6-121446881-G-GA, CADD 32.00
- K13E (p.Lys13Glu), rs2536821115, ClinGen CA365557782, ClinVar RCV003120407, REVEL 0.57, MetaLR 0.93, Uncertain significance, not provided
- K13K (p.Lys13Lys), gnomAD 6-121446886-G-A, CADD 7.78
- A16G (p.Ala16Gly), gnomAD rs1427954225, REVEL 0.67, MetaLR 0.93, Uncertain significance, not specified
- A16P (p.Ala16Pro), gnomAD 6-121446890-CA-C, CADD 28.60
- Y17* (p.Tyr17Ter), ExAC rs766059886, gnomAD rs766059886, CADD 33.00
- Y17S (p.Tyr17Ser), rs104893961, ClinGen CA127011, ClinVar RCV000018503, UniProt VAR 015747, AlphaMissense 0.88, MetaLR 0.97, Pathogenic, Oculodentodigital dysplasia
- Y17Y (p.Tyr17Tyr), gnomAD 6-121446898-C-T, CADD 6.10
- S18* (p.Ser18Ter), rs1773898086, ClinGen CA365557819, ClinVar RCV001210770, Ensembl rs1773898086, Pathogenic, in ODDD
- S18P (p.Ser18Pro), rs104893962, ClinGen CA215133, ClinVar RCV000018504, UniProt VAR 015748, AlphaMissense 0.99, MetaLR 0.99, Pathogenic, Oculodentodigital dysplasia
- S18S (p.Ser18Ser), gnomAD 6-121446901-A-T, CADD 10.60
- T19A (p.Thr19Ala), NCI-TCGA Cosmic COSV9924, REVEL 0.95, MetaLR 0.99, Variant assessed as somatic; moderate impact.
- T19M (p.Thr19Met), gnomAD 6-121446902-AC-A, CADD 27.60
- T19S (p.Thr19Ser), gnomAD 6-121446903-C-G, REVEL 0.91, MetaLR 0.98
- T19T (p.Thr19Thr), rs751197370, gnomAD 6-121446904-T-A, CADD 1.22
- A20V (p.Ala20Val), rs1386157776, gnomAD rs1386157776, REVEL 0.48, MetaLR 0.76, Variant assessed as somatic; moderate impact.
- G21R (p.Gly21Arg), rs104893963, ClinGen CA127012, ClinVar RCV000018505, ClinVar RCV006461176, AlphaMissense 0.98, MetaLR 0.96, Pathogenic, Oculodentodigital dysplasia, autosomal recessive
- G22E (p.Gly22Glu), rs104893964, ClinGen CA127013, NCI-TCGA Cosmic COSV9924, ClinVar RCV000018506, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive
- G22R (p.Gly22Arg), rs1773898234, ClinGen CA365557837, ClinVar RCV001046978, Ensembl rs1773898234, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Oculodentodigital dysplasia, autosomal recessive
- G22G (p.Gly22Gly), rs754592117, gnomAD 6-121446913-G-A, CADD 11.10
- K23T (p.Lys23Thr), UniProt VAR 015751, MetaLR 0.98, MetaSVM 1.05, Pathogenic, in ODDD
- V24L (p.Val24Leu), TOPMed rs1773898427, gnomAD rs1773898427, REVEL 0.68, MetaLR 0.94
- V24M (p.Val24Met), gnomAD 6-121446917-G-A, REVEL 0.81, MetaLR 0.98
- W25C (p.Trp25Cys), rs1773898476, ClinGen CA365557864, ClinVar RCV001267462, ClinVar RCV001268323, AlphaMissense 0.99, MetaLR 0.99, Pathogenic/Likely pathogenic, Inborn genetic diseases; not provided
- S27A (p.Ser27Ala), Ensembl rs1582558042
- S27P (p.Ser27Pro), UniProt VAR 038356, MetaLR 0.97, MetaSVM 1.12, Pathogenic, in ODDD
- S27S (p.Ser27Ser), rs1286172260, gnomAD 6-121446928-A-G, CADD 1.97
- V28I (p.Val28Ile), gnomAD 6-121446929-G-A, REVEL 0.59, MetaLR 0.98
- F30L (p.Phe30Leu), gnomAD 6-121446935-T-C, REVEL 0.86, MetaLR 0.96
- F30C (p.Phe30Cys), gnomAD 6-121446936-T-G, REVEL 0.96, MetaLR 0.98
- I31M (p.Ile31Met), rs1773898804, ClinGen CA365557902, ClinVar RCV001391613, TOPMed rs1773898804, AlphaMissense 0.84, MetaLR 0.97, Pathogenic, Oculodentodigital dysplasia
- I31V (p.Ile31Val), Ensembl rs1725714293, MetaLR 0.93, MetaSVM 1.10
- R33* (p.Arg33Ter), rs121912970, ClinGen CA127017, ClinVar RCV000018518, ExAC rs121912970, CADD 35.00, Pathogenic
- R33Q (p.Arg33Gln), rs867908644, NCI-TCGA Cosmic COSV5699, gnomAD rs867908644, REVEL 0.89, MetaLR 0.99, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- R33P (p.Arg33Pro), gnomAD 6-121446945-G-C, REVEL 0.96, MetaLR 0.99
- R33R (p.Arg33Arg), rs752719742, gnomAD 6-121446946-A-G, CADD 11.50
- I34I (p.Ile34Ile), rs1773899027, gnomAD 6-121446949-C-T, CADD 10.60
- L35L (p.Leu35Leu), rs756053951, gnomAD 6-121446950-C-T, CADD 9.94
- L36V (p.Leu36Val), gnomAD 6-121446953-C-G, REVEL 0.39, MetaLR 0.49
- L36L (p.Leu36Leu), rs1339671437, gnomAD 6-121446953-C-T, CADD 10.10
- L37P (p.Leu37Pro), NCI-TCGA Cosmic COSV5699, MetaLR 0.99, MetaSVM 1.03, Variant assessed as somatic; moderate impact.
- L37L (p.Leu37Leu), rs1773899212, gnomAD 6-121446956-C-T, CADD 8.29
- G38A (p.Gly38Ala), rs1554200990, ClinGen CA365557940, ClinVar RCV000623295, Ensembl rs1554200990, AlphaMissense 0.67, MetaLR 0.93, Likely pathogenic, Inborn genetic diseases
- G38E (p.Gly38Glu), rs1554200990, ClinGen CA365557939, ClinVar RCV003084865, ClinVar RCV003332408, AlphaMissense 0.67, MetaLR 0.93, Pathogenic/Likely pathogenic, not provided; Oculodentodigital dysplasia, autosomal recessive
- T39D (p.Thr39Asp), gnomAD 6-121446956-C-CT, CADD 29.00
- T39T (p.Thr39Thr), rs555672534, gnomAD 6-121446964-A-G, CADD 4.71
- A40V (p.Ala40Val), rs1554200992, ClinGen CA365557952, ClinVar RCV000504313, ClinVar RCV002506224, REVEL 0.85, MetaLR 0.97, Pathogenic, not provided; Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosoma
- A40S (p.Ala40Ser), rs1562173987, gnomAD 6-121446946-A-AAT, CADD 29.60
- A40A (p.Ala40Ala), rs1265524797, gnomAD 6-121446967-G-A, CADD 0.57
- V41L (p.Val41Leu), rs2536821212, ClinGen CA365557955, ClinVar RCV003518753, UniProt VAR 058993, Likely pathogenic, Oculodentodigital dysplasia, autosomal recessive
- V41N (p.Val41Asn), gnomAD 6-121446943-C-CCG, CADD 24.90
- V41Q (p.Val41Gln), gnomAD 6-121446962-A-ACA, CADD 28.30
- E42* (p.Glu42Ter), NCI-TCGA Cosmic COSV5699, Variant assessed as somatic; high impact.
- S43L (p.Ser43Leu), NCI-TCGA Cosmic COSV9924, MetaLR 0.96, MetaSVM 1.12, Variant assessed as somatic; moderate impact.
- S43S (p.Ser43Ser), rs749135596, gnomAD 6-121446976-A-G, CADD 8.30
- A44S (p.Ala44Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in EKVP3
- A44V (p.Ala44Val), rs794729675, ClinGen CA203901, ClinVar RCV000185625, ClinVar RCV002516956, AlphaMissense 0.79, MetaLR 0.52, Pathogenic/Likely pathogenic, Erythrokeratodermia variabilis et progressiva 3; Oculodentodigital dysplasia, au
- A44L (p.Ala44Leu), gnomAD 6-121446976-AGC-A, CADD 32.00
- A44A (p.Ala44Ala), rs770568811, gnomAD 6-121446979-C-T, CADD 7.66
- G46* (p.Gly46Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G46A (p.Gly46Ala), ExAC rs780272382, TOPMed rs780272382, gnomAD rs780272382, REVEL 0.86, MetaLR 0.96, Uncertain significance, Autosomal dominant palmoplantar keratoderma and congenital alopecia; Craniometap
- G46E (p.Gly46Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G46V (p.Gly46Val), ExAC rs780272382, TOPMed rs780272382, gnomAD rs780272382, MetaLR 0.98, MetaSVM 1.07
- D47H (p.Asp47His), UniProt VAR 071009, Pathogenic, in ODDD
- D47V (p.Asp47Val), rs1554200995, ClinGen CA365557998, ClinVar RCV000560533, ClinVar RCV000998674, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, Oculodentodigital dysplasia, autosomal recessive; not provided
- E48K (p.Glu48Lys), rs1773899790, ClinGen CA365558001, ClinVar RCV001329666, ClinVar RCV001378531, AlphaMissense 0.99, MetaLR 0.99, Pathogenic/Likely pathogenic, Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive
- E48E (p.Glu48Glu), gnomAD 6-121446991-G-A, CADD 10.30
- Q49H (p.Gln49His), 1000Genomes rs747221644, ExAC rs747221644, gnomAD rs747221644, REVEL 0.92, MetaLR 0.97
- Q49K (p.Gln49Lys), UniProt VAR 015753, Pathogenic, in ODDD
- Q49P (p.Gln49Pro), UniProt VAR 058994, Pathogenic, in ODDD
- Q49E (p.Gln49Glu), rs1253619344, gnomAD 6-121446982-G-GGG, CADD 32.00
- Q49L (p.Gln49Leu), gnomAD 6-121446993-A-T, REVEL 0.96, MetaLR 0.98
- S50S (p.Ser50Ser), rs1451772901, gnomAD 6-121446997-T-A, CADD 2.91
- A51G (p.Ala51Gly), rs2536821253, ClinGen CA365558026, ClinVar RCV003042722, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- R53C (p.Arg53Cys), rs1189422011, NCI-TCGA Cosmic COSV5699, TOPMed rs1189422011, REVEL 0.70, MetaLR 0.89, Variant assessed as somatic; moderate impact.
- R53G (p.Arg53Gly), TOPMed rs1189422011, gnomAD rs1189422011, REVEL 0.64, MetaLR 0.85
- R53H (p.Arg53His), rs2536821268, ClinGen CA365558039, ClinVar RCV003081161, REVEL 0.45, MetaLR 0.80, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- C54S (p.Cys54Ser), gnomAD 6-121447008-G-C, REVEL 0.97, MetaLR 0.99
- N55* (p.Asn55Ter), rs2114283056, ClinGen CA2499218051, ClinVar RCV001360011, Uncertain significance
- N55S (p.Asn55Ser), rs1562174023, ClinGen CA365558057, ClinVar RCV000731884, ClinVar RCV005870832, AlphaMissense 0.72, MetaLR 0.98, Uncertain significance, Inborn genetic diseases; Oculodentodigital dysplasia; not provided
- N55N (p.Asn55Asn), rs1389741457, gnomAD 6-121447012-C-T, CADD 10.30
- T56T (p.Thr56Thr), rs768793389, gnomAD 6-121447015-T-C, CADD 6.34
- Q57* (p.Gln57Ter), gnomAD rs1166932620, CADD 36.00
- Q57Q (p.Gln57Gln), rs776662901, gnomAD 6-121447018-G-A, CADD 1.63
- Q58Q (p.Gln58Gln), rs1457344718, gnomAD 6-121447021-A-G, CADD 6.04
- P59H (p.Pro59His), UniProt VAR 058996, MetaLR 0.99, MetaSVM 1.01, Pathogenic, in ODDD
- G60A (p.Gly60Ala), rs2536821290, ClinGen CA365558127, ClinVar RCV004555189, Likely pathogenic, Oculodentodigital dysplasia
- G60G (p.Gly60Gly), gnomAD 6-121447027-T-C, CADD 11.50
- C61S (p.Cys61Ser), NCI-TCGA Cosmic COSV9924, Variant assessed as somatic; moderate impact.
- C61Y (p.Cys61Tyr), TOPMed rs1773900400
- E62K (p.Glu62Lys), rs2536821298, ClinGen CA365558146, ClinVar RCV003632163, NCI-TCGA TCGA novel, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- N63D (p.Asn63Asp), rs1773900443, ClinGen CA365558162, ClinVar RCV002304501, AlphaMissense 0.93, MetaLR 0.98, Pathogenic, Oculodentodigital dysplasia, autosomal recessive
- N63H (p.Asn63His), rs1773900443, ClinGen CA365558163, ClinVar RCV001266912, Ensembl rs1773900443, AlphaMissense 0.93, MetaLR 0.98, Uncertain significance, Inborn genetic diseases
- N63K (p.Asn63Lys), rs139688042, ClinGen CA365558173, ClinVar RCV001974023, ESP rs139688042, AlphaMissense 0.99, MetaLR 0.98, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- N63N (p.Asn63Asn), rs139688042, gnomAD 6-121447036-T-C, AlphaMissense 0.99, MetaLR 0.98
- V64V (p.Val64Val), rs1390540506, gnomAD 6-121447039-C-T, CADD 10.30
- C65C (p.Cys65Cys), rs770356522, gnomAD 6-121447042-C-T, CADD 12.10
- Y66C (p.Tyr66Cys), rs904683660, ClinGen CA146810022, ClinVar RCV003516970, TOPMed rs904683660, REVEL 0.99, MetaLR 0.99, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- Y66H (p.Tyr66His), rs2114283106, ClinGen CA365558202, ClinVar RCV002037343, Ensembl rs2114283106, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Oculodentodigital dysplasia, autosomal recessive
- Y66Y (p.Tyr66Tyr), gnomAD 6-121447045-T-C, CADD 4.81
- D67D (p.Asp67Asp), rs1282411388, gnomAD 6-121447048-C-T, CADD 10.30
- K68E (p.Lys68Glu), gnomAD rs1773900738, REVEL 0.67, MetaLR 0.88, Uncertain significance, not provided
- K68N (p.Lys68Asn), NCI-TCGA Cosmic COSV9924, MetaLR 0.91, MetaSVM 0.92, Variant assessed as somatic; moderate impact.
- K68R (p.Lys68Arg), ESP rs374218530, TOPMed rs374218530, gnomAD rs374218530, REVEL 0.58, MetaLR 0.81
- S69Y (p.Ser69Tyr), UniProt VAR 038358, Pathogenic, in ODDD
- F70S (p.Phe70Ser), NCI-TCGA TCGA novel, MetaLR 0.98, MetaSVM 1.06, Variant assessed as somatic; moderate impact.
- P71L (p.Pro71Leu), Ensembl rs1239606179, MetaLR 0.99, MetaSVM 1.01
- I72N (p.Ile72Asn), NCI-TCGA TCGA novel, MetaLR 0.99, MetaSVM 1.02, Variant assessed as somatic; high impact.
- I72V (p.Ile72Val), gnomAD 6-121447061-A-G, REVEL 0.79, MetaLR 0.94
- I72M (p.Ile72Met), gnomAD 6-121447063-C-G, REVEL 0.85, MetaLR 0.99
- I72I (p.Ile72Ile), rs575737793, gnomAD 6-121447063-C-T, CADD 11.50
- S73S (p.Ser73Ser), rs1320652565, gnomAD 6-121447066-T-C, CADD 6.79
- H74C (p.His74Cys), rs1229680139, gnomAD 6-121447061-ATC-A, CADD 31.00
- H74H (p.His74His), rs1773901000, gnomAD 6-121447069-T-C, CADD 2.55
- V75M (p.Val75Met), gnomAD 6-121447070-G-A, REVEL 0.80, MetaLR 0.96
- V75L (p.Val75Leu), gnomAD 6-121447070-G-C, REVEL 0.77, MetaLR 0.94
- R76C (p.Arg76Cys), rs267606845, ClinGen CA365558314, NCI-TCGA Cosmic COSV9924, ClinVar RCV003518754, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Oculodentodigital dysplasia, autosomal recessive
- R76H (p.Arg76His), rs267606844, ClinGen CA127019, NCI-TCGA Cosmic COSV9924, ClinVar RCV000018519, REVEL 0.93, MetaLR 0.97, Pathogenic, Oculodentodigital dysplasia, autosomal recessive
- R76S (p.Arg76Ser), rs267606845, ClinGen CA127020, ClinVar RCV000018520, ClinVar RCV000430201, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, not provided; Oculodentodigital dysplasia, autosomal recessive; Oculodentodigita
- R76R (p.Arg76Arg), rs1320486044, gnomAD 6-121447075-C-T, CADD 10.40
- F77L (p.Phe77Leu), Ensembl rs1773901207
- F77F (p.Phe77Phe), gnomAD 6-121447078-C-T, CADD 11.10
- W78C (p.Trp78Cys), gnomAD 6-121447081-G-C, REVEL 0.96, MetaLR 0.99
- V79V (p.Val79Val), rs1271876457, gnomAD 6-121447084-C-T, CADD 9.91
- L80L (p.Leu80Leu), gnomAD 6-121447085-C-T, CADD 10.50
- Q81Q (p.Gln81Gln), gnomAD 6-121447090-G-A, CADD 9.61
- I82F (p.Ile82Phe), TOPMed rs1466665249, gnomAD rs1466665249, REVEL 0.71, MetaLR 0.91
- I82L (p.Ile82Leu), TOPMed rs1466665249, gnomAD rs1466665249
- I82M (p.Ile82Met), rs1773901440, ClinGen CA365558386, ClinVar RCV001980893, TOPMed rs1773901440, AlphaMissense 0.72, MetaLR 0.97, Likely pathogenic, Oculodentodigital dysplasia, autosomal recessive
- I82T (p.Ile82Thr), NCI-TCGA TCGA novel, MetaLR 0.97, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- I82V (p.Ile82Val), TOPMed rs1466665249, gnomAD rs1466665249, REVEL 0.68, MetaLR 0.89
- I83I (p.Ile83Ile), gnomAD 6-121447096-A-T, CADD 9.95
- F84C (p.Phe84Cys), rs1209697885, NCI-TCGA Cosmic COSV9924, gnomAD rs1209697885, REVEL 0.95, MetaLR 0.97, Variant assessed as somatic; moderate impact.
- F84L (p.Phe84Leu), rs1773901515, ClinGen CA365558412, ClinVar RCV002259460, ClinVar RCV003095862, REVEL 0.78, MetaLR 0.91, Uncertain significance, not provided; Oculodentodigital dysplasia, autosomal recessive
- V85M (p.Val85Met), NCI-TCGA Cosmic COSV9924, MetaLR 0.99, MetaSVM 1.05, Variant assessed as somatic; moderate impact.
- S86T (p.Ser86Thr), rs2114283193, ClinGen CA365558426, ClinVar RCV001995455, Ensembl rs2114283193, AlphaMissense 0.63, MetaLR 0.96, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- S86Y (p.Ser86Tyr), UniProt VAR 071010, Pathogenic, in ODDD
- S86S (p.Ser86Ser), gnomAD 6-121447105-T-C, CADD 3.88
- V87A (p.Val87Ala), gnomAD 6-121447107-T-C, REVEL 0.53, MetaLR 0.79
- P88L (p.Pro88Leu), NCI-TCGA Cosmic COSV5699, Variant assessed as somatic; moderate impact.
- P88H (p.Pro88His), gnomAD 6-121447110-C-A, REVEL 0.96, MetaLR 0.99
- P88P (p.Pro88Pro), rs766836780, gnomAD 6-121447111-C-T, CADD 10.90
- T89T (p.Thr89Thr), rs72548740, gnomAD 6-121447114-A-G, CADD 1.04
- L90P (p.Leu90Pro), TOPMed rs1773901652, gnomAD rs1773901652, REVEL 0.98, MetaLR 0.98
- L90V (p.Leu90Val), UniProt VAR 015756, MetaLR 0.96, MetaSVM 1.11, Pathogenic, in ODDD
- L90L (p.Leu90Leu), rs886061009, gnomAD 6-121447117-C-G, CADD 7.46
- L91V (p.Leu91Val), Ensembl rs1773901726, MetaLR 0.74, MetaSVM -0.09
- Y92* (p.Tyr92Ter), ExAC rs759231549, gnomAD rs759231549, CADD 35.00
- Y92Y (p.Tyr92Tyr), rs759231549, gnomAD 6-121447123-C-T, CADD 8.50
- L93L (p.Leu93Leu), rs752276109, gnomAD 6-121447126-G-A, CADD 9.94
- A94D (p.Ala94Asp), NCI-TCGA Cosmic COSV5699, MetaLR 0.92, MetaSVM 1.06, Variant assessed as somatic; moderate impact.
- H95R (p.His95Arg), rs2536821604, ClinGen CA365558536, ClinVar RCV002293880, ClinVar RCV004731261, Uncertain significance, not provided
- H95Y (p.His95Tyr), rs2536821601, ClinGen CA365558532, ClinVar RCV003631710, REVEL 0.83, MetaLR 0.92, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- V96A (p.Val96Ala), rs2536821609, ClinGen CA365558549, ClinVar RCV003518755, UniProt VAR 058999, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- V96E (p.Val96Glu), UniProt VAR 059000, Pathogenic, in ODDD
- V96M (p.Val96Met), rs28931601, ClinGen CA215134, ClinVar RCV000018509, ClinVar RCV005089271, AlphaMissense 0.95, MetaLR 0.98, Pathogenic, Oculodentodigital dysplasia, autosomal recessive
- F97L (p.Phe97Leu), NCI-TCGA Cosmic COSV9924, TOPMed rs1367466175, REVEL 0.45, MetaLR 0.63, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- F97S (p.Phe97Ser), TOPMed rs1439366039
- Y98C (p.Tyr98Cys), UniProt VAR 015757, MetaLR 0.98, MetaSVM 1.07, Likely pathogenic, GJA1-related disorder
- V99E (p.Val99Glu), rs1554201009, ClinGen CA365558586, ClinVar RCV000536865, Ensembl rs1554201009, AlphaMissense 0.85, MetaLR 0.95, Uncertain significance, Oculodentodigital dysplasia, autosomal recessive
- M100T (p.Met100Thr), gnomAD 6-121447146-T-C, REVEL 0.44, MetaLR 0.82
- M100K (p.Met100Lys), gnomAD 6-121447146-T-A, REVEL 0.68, MetaLR 0.79
Public GJA1 analysis runs
- GJA1 analysis run — GJA1 (819 variants) — completed 2026-08-19