OTC (P00480) variants and mutations
OTC (also known as P00480) is a human protein-coding gene encoding an ornithine transcarbamylase, mitochondrial protein. It combines ornithine with carbamoyl phosphate in the mitochondrial urea cycle, allowing toxic nitrogen to be converted ultimately to urea. Loss-of-function variants cause X-linked OTC deficiency and can produce life-threatening hyperammonemia. This analysis covers 828 OTC variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes ornithine carbamoyltransferase deficiency, hereditary disease, and Hyperammonemia. Example OTC variants include M1I, M1L, and M1T.
Variant analysis overview
- Gene: OTC
- Protein: P00480
- UniProt accession: P00480
- Organism: Homo sapiens
- Variants analyzed: 828
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 620 unspecified-consequence records; 107 missense variants; 82 synonymous variants; 6 splice-region variants; 8 frameshift variants; 1 stop-gained variants; 4 substitution
- Prediction scores: 746 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: ornithine carbamoyltransferase deficiency, hereditary disease, Hyperammonemia, Abnormal circulating ornithine concentration, Protein avoidance, chronic granulomatous disease, Global developmental delay, hypotrichosis simplex, uncombable hair syndrome, Marie Unna hereditary hypotrichosis, loose anagen syndrome, Woolly hair.
Protein structure and variant hotspots
- Protein features: 10 binding sites; 21 post-translational modification sites.
- PTM context: 24 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 OTC variants
Examples include M1I, M1L, M1T, M1V, L2V, L2M, L2L, F3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs72552296, ClinGen CA224584, ClinVar RCV000083424, ClinVar RCV002513863, MetaLR 0.92, MetaSVM 1.02, Pathogenic, Ornithine carbamoyltransferase deficiency
- M1L (p.Met1Leu), rs67752076, ClinGen CA224496, ClinVar RCV000083360, MetaLR 0.90, MetaSVM 0.85, Pathogenic, not provided
- M1T (p.Met1Thr), rs72552295, ClinGen CA224547, ClinVar RCV000083397, ClinVar RCV001854457, MetaLR 0.93, MetaSVM 1.02, Pathogenic, Ornithine carbamoyltransferase deficiency
- M1V (p.Met1Val), rs67752076, ClinGen CA224494, ClinVar RCV000083359, MetaLR 0.90, MetaSVM 0.85, Likely pathogenic, Ornithine carbamoyltransferase deficiency
- L2V (p.Leu2Val), ExAC rs766633337, TOPMed rs766633337, gnomAD rs766633337, REVEL 0.48, MetaLR 0.88
- L2M (p.Leu2Met), gnomAD X-38352700-C-A, REVEL 0.46, MetaLR 0.88
- L2L (p.Leu2Leu), gnomAD X-38352702-G-A, CADD 9.32
- F3L (p.Phe3Leu), gnomAD X-38352703-T-C, REVEL 0.32, MetaLR 0.77
- N4D (p.Asn4Asp), rs1051365488, ClinGen CA412712862, ClinVar RCV003018428, TOPMed rs1051365488, REVEL 0.36, MetaLR 0.84, Conflicting interpretations, Ornithine carbamoyltransferase deficiency
- N4H (p.Asn4His), TOPMed rs1051365488, gnomAD rs1051365488, REVEL 0.37, MetaLR 0.83, Uncertain significance, Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- N4K (p.Asn4Lys), ExAC rs751669439, gnomAD rs751669439, MetaLR 0.82, MetaSVM 0.45, Uncertain significance, Ornithine carbamoyltransferase deficiency
- L5M (p.Leu5Met), gnomAD X-38352709-C-A, REVEL 0.36, MetaLR 0.85
- L5L (p.Leu5Leu), rs755245595, gnomAD X-38352711-G-A, CADD 7.84
- R6K (p.Arg6Lys), rs2519941871, ClinVar RCV004577183, REVEL 0.37, MetaLR 0.84, Uncertain significance, Ornithine carbamoyltransferase deficiency
- R6M (p.Arg6Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R6R (p.Arg6Arg), gnomAD X-38352714-G-A, CADD 10.70
- I7T (p.Ile7Thr), TOPMed rs1311686045, REVEL 0.41, MetaLR 0.80
- I7V (p.Ile7Val), ExAC rs767170971, gnomAD rs767170971, REVEL 0.36, MetaLR 0.86
- I7I (p.Ile7Ile), gnomAD X-38352717-C-A, CADD 8.53
- L8P (p.Leu8Pro), gnomAD X-38352719-T-C, REVEL 0.65, MetaLR 0.91
- L9F (p.Leu9Phe), NCI-TCGA Cosmic COSV5000, Variant assessed as somatic; moderate impact.
- L9V (p.Leu9Val), gnomAD rs1440140895, REVEL 0.51, MetaLR 0.82, Uncertain significance, Ornithine carbamoyltransferase deficiency
- N10N (p.Asn10Asn), gnomAD X-38352726-C-T, CADD 6.05
- N10K (p.Asn10Lys), gnomAD X-38352726-C-A, REVEL 0.37, MetaLR 0.81
- N11S (p.Asn11Ser), rs2519941902, ClinGen CA412713053, ClinVar RCV003070460, REVEL 0.29, MetaLR 0.79, Uncertain significance, Ornithine carbamoyltransferase deficiency
- A12T (p.Ala12Thr), Ensembl rs1753663482, MetaLR 0.82, MetaSVM 0.35
- A12E (p.Ala12Glu), gnomAD X-38352731-C-A, REVEL 0.44, MetaLR 0.85
- A13P (p.Ala13Pro), NCI-TCGA Cosmic COSV5000, MetaLR 0.82, MetaSVM 0.38, Variant assessed as somatic; moderate impact.
- A13G (p.Ala13Gly), gnomAD X-38352734-C-G, REVEL 0.36, MetaLR 0.84
- N16D (p.Asn16Asp), ExAC rs752571514
- N16S (p.Asn16Ser), TOPMed rs2068224755, MetaLR 0.83, MetaSVM 0.24
- G17A (p.Gly17Ala), gnomAD X-38352746-G-C, REVEL 0.31, MetaLR 0.81
- H18N (p.His18Asn), rs2519941947, ClinGen CA412713192, ClinVar RCV003131861, REVEL 0.19, MetaLR 0.81, Uncertain significance, Ornithine carbamoyltransferase deficiency
- H18Q (p.His18Gln), rs2147315516, ClinGen CA412713205, ClinVar RCV002006250, Ensembl rs2147315516, REVEL 0.25, MetaLR 0.83, Uncertain significance, Ornithine carbamoyltransferase deficiency
- F20S (p.Phe20Ser), gnomAD X-38352755-T-C, REVEL 0.23, MetaLR 0.82
- M21L (p.Met21Leu), ExAC rs755909408, gnomAD rs755909408, MetaLR 0.75, MetaSVM 0.35, Likely benign
- M21T (p.Met21Thr), rs749285675, ClinGen CA10385773, ClinVar RCV003420887, ClinVar RCV004011305, REVEL 0.37, MetaLR 0.85, Uncertain significance, Ornithine carbamoyltransferase deficiency
- M21V (p.Met21Val), rs755909408, ClinGen CA10385771, ClinVar RCV002095578, ExAC rs755909408, REVEL 0.24, MetaLR 0.78, Likely benign, Ornithine carbamoyltransferase deficiency
- M21I (p.Met21Ile), gnomAD X-38352759-G-T, REVEL 0.29, MetaLR 0.85
- V22I (p.Val22Ile), ExAC rs756685463, gnomAD rs756685463, MetaLR 0.86, MetaSVM 0.84
- V22V (p.Val22Val), rs1237799169, gnomAD X-38352762-T-C, CADD 6.05
- R23* (p.Arg23Ter), rs72552300, ClinGen CA224742, NCI-TCGA Cosmic COSV5000, ClinVar RCV000083537, Pathogenic
- R23Q (p.Arg23Gln), rs148660170, ClinGen CA327916977, ClinVar RCV002113113, ClinVar RCV004046276, REVEL 0.50, MetaLR 0.83, Conflicting interpretations, Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- R23R (p.Arg23Arg), gnomAD X-38352763-C-A, CADD 9.76
- F25S (p.Phe25Ser), gnomAD X-38352770-T-C, REVEL 0.65, MetaLR 0.84
- R26L (p.Arg26Leu), rs68031618, ClinGen CA412713310, ClinVar RCV002249117, 1000Genomes rs68031618, AlphaMissense 0.15, MetaLR 0.84, Likely pathogenic, Ornithine carbamoyltransferase deficiency
- R26P (p.Arg26Pro), rs68031618, ClinGen CA224780, ClinVar RCV000083566, 1000Genomes rs68031618, AlphaMissense 0.15, MetaLR 0.84, Pathogenic, not provided
- R26Q (p.Arg26Gln), rs68031618, ClinGen CA255647, NCI-TCGA Cosmic COSV5000, ClinVar RCV000011740, REVEL 0.56, AlphaMissense 0.15, Pathogenic/Likely pathogenic, Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- R26W (p.Arg26Trp), rs1057515879, ClinGen CA10653910, NCI-TCGA Cosmic COSV5000, ClinVar RCV000363211, REVEL 0.37, MetaLR 0.83, Uncertain significance, not provided; Ornithine carbamoyltransferase deficiency
- R26R (p.Arg26Arg), gnomAD X-38352772-C-A, CADD 9.36
- C27Y (p.Cys27Tyr), ExAC rs759639432, gnomAD rs759639432, MetaLR 0.78, MetaSVM 0.15
- C27C (p.Cys27Cys), rs993705802, gnomAD X-38367294-T-C, CADD 10.30
- G28E (p.Gly28Glu), rs199858968, ClinGen CA10385785, ClinVar RCV001057159, ESP rs199858968, REVEL 0.71, MetaLR 0.93, Uncertain significance, Ornithine carbamoyltransferase deficiency
- G28G (p.Gly28Gly), gnomAD X-38367297-A-G, CADD 8.76
- Q29E (p.Gln29Glu), rs752916728, ClinGen CA10385786, ClinVar RCV001249000, ClinVar RCV001511499, REVEL 0.37, MetaLR 0.83, Conflicting interpretations, Inborn genetic diseases; not specified; not provided
- Q29P (p.Gln29Pro), 1000Genomes rs759104592, ExAC rs759104592, gnomAD rs759104592, REVEL 0.50, MetaLR 0.85
- P30Q (p.Pro30Gln), rs753712951, ClinGen CA10385789, ClinVar RCV001966154, ClinVar RCV003355712, REVEL 0.41, MetaLR 0.87, Conflicting interpretations, Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- P30S (p.Pro30Ser), rs763877023, ClinGen CA10385788, ClinVar RCV002625542, ClinVar RCV005455556, REVEL 0.32, MetaLR 0.79, Uncertain significance, Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- P30T (p.Pro30Thr), gnomAD X-38367301-C-A, REVEL 0.33, MetaLR 0.78
- L31P (p.Leu31Pro), rs2519950526, ClinGen CA412715758, ClinVar RCV003831773, REVEL 0.50, MetaLR 0.84, Uncertain significance, Ornithine carbamoyltransferase deficiency
- L31L (p.Leu31Leu), rs2068301228, gnomAD X-38367306-A-G, CADD 6.60
- Q32* (p.Gln32Ter), rs72554304, ClinGen CA224854, ClinVar RCV000083618, Ensembl rs72554304, Pathogenic
- N33S (p.Asn33Ser), gnomAD X-38367311-A-G, REVEL 0.25, MetaLR 0.78
- K34E (p.Lys34Glu), gnomAD X-38367313-A-G, REVEL 0.32, MetaLR 0.79
- V35M (p.Val35Met), gnomAD X-38367316-G-A, REVEL 0.46, MetaLR 0.81
- V35V (p.Val35Val), rs757207910, gnomAD X-38367318-G-A, CADD 4.48
- Q36* (p.Gln36Ter), rs72554305, ClinGen CA224451, ClinVar RCV000083330, ExAC rs72554305, AlphaMissense 0.08, MetaLR 0.80, Pathogenic
- Q36E (p.Gln36Glu), ExAC rs72554305, gnomAD rs72554305, REVEL 0.34, AlphaMissense 0.08, Uncertain significance, Inborn genetic diseases
- Q36Q (p.Gln36Gln), gnomAD X-38367321-G-A, CADD 6.38
- L37P (p.Leu37Pro), gnomAD X-38367323-T-C, REVEL 0.87, MetaLR 0.93
- L37L (p.Leu37Leu), rs1229368741, gnomAD X-38367324-G-A, CADD 7.86
- K38N (p.Lys38Asn), gnomAD rs1057522000, REVEL 0.58, MetaLR 0.85, Likely benign
- K38R (p.Lys38Arg), gnomAD X-38367324-GA-G, CADD 26.50
- K38M (p.Lys38Met), gnomAD X-38367326-A-T, REVEL 0.75, MetaLR 0.89
- K38K (p.Lys38Lys), rs1057522000, gnomAD X-38367327-G-A, CADD 8.43
- G39A (p.Gly39Ala), rs1602014500, ClinGen CA412715920, ClinVar RCV001170078, Ensembl rs1602014500, AlphaMissense 0.40, MetaLR 0.93, Pathogenic, Ornithine carbamoyltransferase deficiency
- G39C (p.Gly39Cys), rs72554306, ClinGen CA224453, ClinVar RCV000083331, UniProt VAR 004844, AlphaMissense 0.60, MetaLR 0.94, Pathogenic, not provided
- G39D (p.Gly39Asp), rs1602014500, ClinGen CA412715916, ClinVar RCV000810594, ClinVar RCV001201208, REVEL 0.83, AlphaMissense 0.40, Conflicting interpretations, not specified; not provided; Ornithine carbamoyltransferase deficiency
- G39V (p.Gly39Val), rs1602014500, ClinVar RCV004566520, AlphaMissense 0.40, MetaLR 0.93, Likely pathogenic, Ornithine carbamoyltransferase deficiency
- G39G (p.Gly39Gly), gnomAD X-38367330-C-A, CADD 0.82
- R40C (p.Arg40Cys), rs72554307, ClinGen CA090910, ClinVar RCV000011760, ClinVar RCV000083332, REVEL 0.90, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Ornithine carbamoyltransferase deficiency
- R40H (p.Arg40His), rs72554308, ClinGen CA224454, ClinVar RCV000011761, ClinVar RCV000083333, REVEL 0.61, AlphaMissense 0.17, Pathogenic/Likely pathogenic, not provided; Ornithine carbamoyltransferase deficiency
- R40L (p.Arg40Leu), rs72554308, ClinGen CA412715937, ClinVar RCV003509053, AlphaMissense 0.17, MetaLR 0.95, Likely pathogenic, not provided; Ornithine carbamoyltransferase deficiency
- D41G (p.Asp41Gly), rs74518351, ClinGen CA224455, ClinVar RCV000083334, ClinVar RCV001064676, AlphaMissense 0.93, MetaLR 0.97, Likely pathogenic, Ornithine carbamoyltransferase deficiency
- D41V (p.Asp41Val), rs74518351, ClinGen CA10605721, ClinVar RCV000324897, Ensembl rs74518351, AlphaMissense 0.93, MetaLR 0.97, Uncertain significance, not provided
- D41D (p.Asp41Asp), rs2068301552, gnomAD X-38367336-C-T, CADD 6.82
- D41E (p.Asp41Glu), gnomAD X-38367336-C-A, REVEL 0.58, MetaLR 0.94
- L42F (p.Leu42Phe), TOPMed rs2068301573
- L42H (p.Leu42His), rs2519950616, ClinGen CA2580100825, ClinVar RCV002300197, Uncertain significance, Ornithine carbamoyltransferase deficiency
- L42I (p.Leu42Ile), gnomAD X-38367337-C-A, REVEL 0.59, MetaLR 0.95
- L43F (p.Leu43Phe), rs72554309, ClinGen CA224457, ClinVar RCV000083335, UniProt VAR 004847, AlphaMissense 0.18, MetaLR 0.93, Pathogenic, not provided
- L43I (p.Leu43Ile), rs72554309, ClinGen CA327925152, ClinVar RCV002050843, ClinVar RCV003331217, REVEL 0.71, AlphaMissense 0.18, Uncertain significance, not provided; not specified; Ornithine carbamoyltransferase deficiency
- L43P (p.Leu43Pro), rs2068301622, ClinGen CA412715997, ClinVar RCV001201344, Ensembl rs2068301622, REVEL 0.98, MetaLR 0.98, Pathogenic, Ornithine carbamoyltransferase deficiency
- L43L (p.Leu43Leu), gnomAD X-38367342-C-A, CADD 5.52
- T44I (p.Thr44Ile), rs72554310, ClinGen CA224459, ClinVar RCV000083336, ClinVar RCV001813756, AlphaMissense 0.78, MetaLR 0.98, Pathogenic, Ornithine carbamoyltransferase deficiency
- T44N (p.Thr44Asn), gnomAD X-38367344-C-A, REVEL 0.81, MetaLR 0.96
- L45P (p.Leu45Pro), rs72554312, ClinGen CA224461, ClinVar RCV000011739, ClinVar RCV000083338, AlphaMissense 0.93, MetaLR 0.96, Pathogenic, not provided; Ornithine carbamoyltransferase deficiency
- L45R (p.Leu45Arg), rs72554312, ClinGen CA412716024, ClinVar RCV003040285, AlphaMissense 0.93, MetaLR 0.96, Likely pathogenic, Ornithine carbamoyltransferase deficiency
- L45V (p.Leu45Val), rs72554311, ClinGen CA224460, ClinVar RCV000083337, ClinVar RCV006461450, AlphaMissense 0.32, MetaLR 0.92, Pathogenic, Ornithine carbamoyltransferase deficiency
- K46R (p.Lys46Arg), rs1800321, ClinGen CA121291, ClinVar RCV000011741, ClinVar RCV000079082, REVEL 0.41, MetaLR 0.00, Benign, Inborn genetic diseases; not specified; not provided
- K46E (p.Lys46Glu), gnomAD X-38367349-A-G, REVEL 0.50, MetaLR 0.84
- N47H (p.Asn47His), rs2519950651, ClinGen CA412716055, ClinVar RCV002791482, ClinVar RCV004690326, Uncertain significance, Ornithine carbamoyltransferase deficiency; not specified
- N47I (p.Asn47Ile), rs67939655, ClinGen CA224465, ClinVar RCV000083341, ClinVar RCV002513861, AlphaMissense 0.33, MetaLR 0.89, Pathogenic, Ornithine carbamoyltransferase deficiency
- N47T (p.Asn47Thr), rs67939655, ClinGen CA224463, ClinVar RCV000083340, ClinVar RCV000148720, REVEL 0.52, AlphaMissense 0.33, Conflicting interpretations, Inborn genetic diseases; not specified; Ornithine carbamoyltransferase deficienc
- F48S (p.Phe48Ser), rs72554315, ClinGen CA224467, ClinVar RCV000083343, Ensembl rs72554315, REVEL 0.78, MetaLR 0.97, Pathogenic, not provided
- F48L (p.Phe48Leu), gnomAD X-38367354-CT-C, CADD 26.20
- F48F (p.Phe48Phe), gnomAD X-38367357-T-C, CADD 9.52
- T49I (p.Thr49Ile), rs2519950673, ClinGen CA412716108, ClinVar RCV003511067, Uncertain significance, Ornithine carbamoyltransferase deficiency
- T49P (p.Thr49Pro), rs72554316, ClinGen CA224469, ClinVar RCV000083344, ClinVar RCV003485536, AlphaMissense 0.25, MetaLR 0.95, Uncertain significance, Ornithine carbamoyltransferase deficiency
- T49S (p.Thr49Ser), rs72554316, ClinGen CA412716102, ClinVar RCV003486179, AlphaMissense 0.25, MetaLR 0.95, Uncertain significance, Ornithine carbamoyltransferase deficiency
- T49N (p.Thr49Asn), gnomAD X-38367359-C-A, REVEL 0.50, MetaLR 0.91
- T49T (p.Thr49Thr), rs144153859, gnomAD X-38367360-C-G, CADD 5.50
- G50* (p.Gly50Ter), rs67486158, ClinGen CA224472, ClinVar RCV000011749, ClinVar RCV000083346, AlphaMissense 0.21, MetaLR 0.73, Pathogenic, in OTCD
- G50A (p.Gly50Ala), rs201802621, ClinGen CA10385794, ClinVar RCV001435038, ExAC rs201802621, REVEL 0.39, MetaLR 0.67, Conflicting interpretations, Ornithine carbamoyltransferase deficiency
- G50E (p.Gly50Glu), ExAC rs201802621, TOPMed rs201802621, gnomAD rs201802621, REVEL 0.54, MetaLR 0.77, Likely benign, in OTCD
- G50R (p.Gly50Arg), rs67486158, ClinGen CA224471, ClinVar RCV000083345, ClinVar RCV001027709, REVEL 0.60, AlphaMissense 0.21, Likely benign, Ornithine carbamoyltransferase deficiency
- G50V (p.Gly50Val), ExAC rs201802621, TOPMed rs201802621, gnomAD rs201802621, REVEL 0.66, MetaLR 0.76, Likely benign, in OTCD
- G50G (p.Gly50Gly), gnomAD X-38367363-A-G, CADD 12.10
- E52* (p.Glu52Ter), rs66521141, ClinGen CA224476, NCI-TCGA Cosmic COSV9923, ClinVar RCV000083348, AlphaMissense 0.85, MetaLR 0.98, Pathogenic
- E52D (p.Glu52Asp), rs72554318, ClinGen CA224480, ClinVar RCV000083350, Ensembl rs72554318, AlphaMissense 0.45, MetaLR 0.96, Likely pathogenic, not provided
- E52G (p.Glu52Gly), rs72554317, ClinGen CA224478, ClinVar RCV000083349, Ensembl rs72554317, AlphaMissense 0.77, MetaLR 0.98, Pathogenic, not provided
- E52K (p.Glu52Lys), rs66521141, ClinGen CA224474, ClinVar RCV000083347, ClinVar RCV000807816, AlphaMissense 0.85, MetaLR 0.98, Pathogenic, Ornithine carbamoyltransferase deficiency
- I53S (p.Ile53Ser), rs66677059, ClinGen CA224484, ClinVar RCV000083352, Ensembl rs66677059, AlphaMissense 0.91, MetaLR 0.97, Pathogenic, not provided
- I53T (p.Ile53Thr), rs66677059, ClinGen CA224482, ClinVar RCV000083351, ClinVar RCV000792966, AlphaMissense 0.91, MetaLR 0.97, Pathogenic/Likely pathogenic, Ornithine carbamoyltransferase deficiency
- I53V (p.Ile53Val), NCI-TCGA TCGA novel, MetaLR 0.92, MetaSVM 1.01, Variant assessed as somatic; moderate impact.
- K54E (p.Lys54Glu), gnomAD X-38367373-A-G, REVEL 0.35, MetaLR 0.75
- K54K (p.Lys54Lys), rs2147323601, gnomAD X-38367375-A-G, CADD 9.12
- K54N (p.Lys54Asn), gnomAD X-38367375-A-C, REVEL 0.36, MetaLR 0.83
- Y55D (p.Tyr55Asp), rs72554319, ClinGen CA224486, ClinVar RCV000083353, UniProt VAR 004854, AlphaMissense 0.23, MetaLR 0.84, Pathogenic, not provided
- M56T (p.Met56Thr), rs72554320, ClinGen CA224487, ClinVar RCV000083354, ClinVar RCV000507068, REVEL 0.71, MetaLR 0.89, Likely pathogenic, not specified
- M56V (p.Met56Val), gnomAD X-38367379-A-G, REVEL 0.45, MetaLR 0.77
- L57Q (p.Leu57Gln), rs72554321, ClinGen CA224488, ClinVar RCV000083355, Ensembl rs72554321, AlphaMissense 0.95, MetaLR 0.98, Pathogenic, not provided
- L57V (p.Leu57Val), gnomAD rs1359303276, MetaLR 0.96, MetaSVM 1.04
- L57I (p.Leu57Ile), gnomAD X-38367382-C-A, REVEL 0.61, MetaLR 0.95
- L57R (p.Leu57Arg), gnomAD X-38367383-T-G, REVEL 0.97, MetaLR 0.98
- L57L (p.Leu57Leu), rs924740805, gnomAD X-38367384-A-G, CADD 2.37
- W58* (p.Trp58Ter), rs72554322, ClinGen CA224490, NCI-TCGA Cosmic COSV9923, ClinVar RCV000083356, CADD 37.00, Pathogenic
- W58R (p.Trp58Arg), Ensembl rs935161024, MetaLR 0.92, MetaSVM 0.93
- L59L (p.Leu59Leu), rs1569273170, gnomAD X-38367390-A-G, CADD 8.79
- S60* (p.Ser60Ter), rs72554323, ClinGen CA412716336, ClinVar RCV002309665, ClinGen CA412716338, AlphaMissense 0.90, MetaLR 0.98, Pathogenic, in OTCD
- S60L (p.Ser60Leu), rs72554323, ClinGen CA224492, ClinVar RCV000083357, UniProt VAR 004856, AlphaMissense 0.90, MetaLR 0.98, Pathogenic, not provided
- S60T (p.Ser60Thr), NCI-TCGA Cosmic COSV5000, Variant assessed as somatic; moderate impact., in OTCD
- A61A (p.Ala61Ala), gnomAD X-38367396-A-G, CADD 12.10
- L63P (p.Leu63Pro), rs72554324, ClinGen CA224493, ClinVar RCV000083358, ClinVar RCV001854455, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, Ornithine carbamoyltransferase deficiency
- K64Q (p.Lys64Gln), gnomAD X-38367403-A-C, REVEL 0.90, MetaLR 0.97
- F65L (p.Phe65Leu), gnomAD rs1244715033, MetaLR 0.66, MetaSVM -0.06, Uncertain significance, Ornithine carbamoyltransferase deficiency
- F65I (p.Phe65Ile), gnomAD X-38367406-T-A, REVEL 0.31, MetaLR 0.68
- R66K (p.Arg66Lys), rs2519950770, ClinGen CA412716412, ClinVar RCV003230133, ClinVar RCV004808463, Uncertain significance, not provided; Ornithine carbamoyltransferase deficiency
- R66T (p.Arg66Thr), NCI-TCGA Cosmic COSV5000, NCI-TCGA Cosmic COSV9923, Variant assessed as somatic; moderate impact.
- R66R (p.Arg66Arg), rs369756595, gnomAD X-38367409-A-C, CADD 11.90
- I67R (p.Ile67Arg), rs72554325, ClinGen CA224498, ClinVar RCV000083361, Ensembl rs72554325, AlphaMissense 0.59, MetaLR 0.93, Pathogenic, not provided
- Q69* (p.Gln69Ter), rs72554326, ClinGen CA224500, ClinVar RCV000083362, ClinVar RCV001385349, Pathogenic
- Q69Q (p.Gln69Gln), gnomAD X-38367420-G-A, CADD 6.61
- K70* (p.Lys70Ter), rs2068302365, ClinGen CA412716472, ClinVar RCV002307237, AlphaMissense 0.11, MetaLR 0.82, Likely pathogenic
- K70E (p.Lys70Glu), gnomAD rs2068302365, REVEL 0.53, AlphaMissense 0.11, Uncertain significance, Ornithine carbamoyltransferase deficiency
- G71R (p.Gly71Arg), 1000Genomes rs763821262, MetaLR 0.90, MetaSVM 0.79
- E72G (p.Glu72Gly), 1000Genomes rs753631467, REVEL 0.79, MetaLR 0.89
- E72K (p.Glu72Lys), rs2068302412, ClinGen CA412716495, NCI-TCGA Cosmic COSV5000, ClinVar RCV001089868, AlphaMissense 0.23, MetaLR 0.76, Pathogenic, Ornithine carbamoyltransferase deficiency
- E72E (p.Glu72Glu), rs987967261, gnomAD X-38367429-G-A, CADD 19.70
- Y73C (p.Tyr73Cys), rs2519952325, ClinGen CA412716768, ClinVar RCV003317774, REVEL 0.72, MetaLR 0.94, Uncertain significance, not specified
- Y73H (p.Tyr73His), gnomAD X-38369796-T-C, REVEL 0.37, MetaLR 0.85
- Y73N (p.Tyr73Asn), gnomAD X-38369796-T-A, REVEL 0.51, MetaLR 0.87
- Y73Y (p.Tyr73Tyr), gnomAD X-38369798-T-C, CADD 13.60
- L74L (p.Leu74Leu), gnomAD X-38369799-T-C, CADD 10.60
- L74M (p.Leu74Met), gnomAD X-38369799-T-A, REVEL 0.38, MetaLR 0.95
- L74S (p.Leu74Ser), gnomAD X-38369800-T-C, REVEL 0.52, MetaLR 0.93
- P75R (p.Pro75Arg), TOPMed rs2068314742, MetaLR 0.88, MetaSVM 0.80
- P75T (p.Pro75Thr), gnomAD X-38369802-C-A, REVEL 0.61, MetaLR 0.92
- P75S (p.Pro75Ser), gnomAD X-38369802-C-T, REVEL 0.56, MetaLR 0.92
- P75L (p.Pro75Leu), gnomAD X-38369803-C-T, REVEL 0.78, MetaLR 0.93
- P75H (p.Pro75His), gnomAD X-38369803-C-A, REVEL 0.75, MetaLR 0.95
- P75P (p.Pro75Pro), rs754702815, gnomAD X-38369804-T-C, CADD 10.40
- L76F (p.Leu76Phe), rs1555972495, ClinGen CA412716809, ClinVar RCV000597047, ClinVar RCV004526711, AlphaMissense 0.21, MetaLR 0.94, Conflicting interpretations, not specified; not provided
- L76S (p.Leu76Ser), rs72554328, ClinGen CA224505, ClinVar RCV000083366, ClinVar RCV005406814, REVEL 0.77, MetaLR 0.94, Uncertain significance, not specified
- L77F (p.Leu77Phe), rs72554329, ClinGen CA224507, ClinVar RCV000083367, ClinVar RCV002514459, AlphaMissense 0.43, MetaLR 0.97, Pathogenic, Ornithine carbamoyltransferase deficiency
- L77L (p.Leu77Leu), gnomAD X-38369808-T-C, CADD 6.49
- Q78* (p.Gln78Ter), rs72554330, ClinGen CA224509, ClinVar RCV000083368, ClinVar RCV005887682, CADD 41.00, Pathogenic
- Q78E (p.Gln78Glu), TOPMed rs72554330, MetaLR 0.83, MetaSVM 0.53, Pathogenic
- Q78R (p.Gln78Arg), gnomAD X-38369812-A-G, REVEL 0.58, MetaLR 0.90
- G79E (p.Gly79Glu), rs72554331, ClinGen CA224511, ClinVar RCV000011753, ClinVar RCV000083369, REVEL 0.98, MetaLR 0.98, Likely pathogenic, Ornithine carbamoyltransferase deficiency
Public OTC analysis runs
- OTC analysis run — OTC (828 variants) — completed 2026-08-18