TECRL (Q5HYJ1) variants and mutations
TECRL (also known as Q5HYJ1) is a human protein-coding gene encoding a trans-2,3-enoyl-CoA reductase-like protein. A membrane protein related to enoyl-CoA reductases whose precise biochemical function remains unclear. Biallelic pathogenic variants cause catecholaminergic polymorphic ventricular tachycardia type 3, an inherited arrhythmia triggered by physical or emotional stress. This analysis covers 622 TECRL variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes catecholaminergic polymorphic ventricular tachycardia, Abnormality of the cardiovascular system, and respiratory tract infectious disorder. Example TECRL variants include F2S, K3E, and R4S.
Variant analysis overview
- Gene: TECRL
- Protein: Q5HYJ1
- UniProt accession: Q5HYJ1
- Organism: Homo sapiens
- Variants analyzed: 622
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 605 unspecified-consequence records; 13 frameshift variants; 2 stop retained variant; 7 stop lost; 27 synonymous variants; 69 missense variants; 7 stop-gained variants; 1 splice-region variants; 3 substitution
- Prediction scores: 583 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: catecholaminergic polymorphic ventricular tachycardia, Abnormality of the cardiovascular system, respiratory tract infectious disorder, frozen shoulder, alcohol drinking, response to antihypertensive drug, generalized dystonia, complication, hemorrhage, cervical carcinoma, obesity disorder, smoking initiation.
Protein structure and variant hotspots
- Protein features: 3 transmembrane segments; 1 post-translational modification sites.
- Structural context: 128 variants have structural context.
- PTM context: 1 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, MaveDB, LitVar.
Diseases linked to TECRL
Notable TECRL variants
Examples include F2S, K3E, R4S, H5N, H5P, H5Q, H5R, S7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- F2S (p.Phe2Ser), ExAC rs766911074, TOPMed rs766911074, gnomAD rs766911074, REVEL 0.10, ESM-1b 0.00
- K3E (p.Lys3Glu), rs2475862886, ClinGen CA357149608, ClinVar RCV004521028, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R4S (p.Arg4Ser), rs867978042, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67085, TOPMed rs867978042, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype
- H5N (p.His5Asn), NCI-TCGA TCGA novel, TOPMed rs1724953872, ESM-1b 0.00, AlphaMissense 0.06, Variant assessed as somatic; moderate impact.
- H5P (p.His5Pro), ExAC rs761043327, TOPMed rs761043327, gnomAD rs761043327, REVEL 0.06, ESM-1b 0.00
- H5Q (p.His5Gln), ExAC rs773646608, TOPMed rs773646608, gnomAD rs773646608, REVEL 0.05, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- H5R (p.His5Arg), ExAC rs761043327, TOPMed rs761043327, gnomAD rs761043327, REVEL 0.05, ESM-1b 0.00
- S7A (p.Ser7Ala), ExAC rs772612143, gnomAD rs772612143, REVEL 0.03, ESM-1b 0.00
- S7P (p.Ser7Pro), ExAC rs772612143, gnomAD rs772612143, REVEL 0.04, ESM-1b 0.00
- S7Y (p.Ser7Tyr), Ensembl rs866083409, ESM-1b 0.00, AlphaMissense 0.08
- L8F (p.Leu8Phe), ExAC rs762237226, gnomAD rs762237226, REVEL 0.13, ESM-1b 0.00, Uncertain significance
- L8H (p.Leu8His), gnomAD rs1309019628, REVEL 0.15, ESM-1b 0.00
- L8R (p.Leu8Arg), gnomAD rs1309019628, REVEL 0.10, ESM-1b 0.00
- A9S (p.Ala9Ser), rs373269339, ClinGen CA98684248, NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- A9T (p.Ala9Thr), rs373269339, ClinGen CA2935715, cosmic curated COSV10469, ClinVar RCV002426233, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype
- S10L (p.Ser10Leu), rs887668463, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67085, TOPMed rs887668463, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- E11D (p.Glu11Asp), rs148442292, ClinGen CA2935713, ClinVar RCV001547333, ClinVar RCV002458518, REVEL 0.03, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; TECRL-related disorder; not specified
- E11G (p.Glu11Gly), Ensembl rs1560569313, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- E11K (p.Glu11Lys), rs1055028800, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67087, gnomAD rs1055028800, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E11* (p.Glu11Ter), gnomAD 4-64280196-C-A, REVEL 0.28, CADD 24.30
- R12C (p.Arg12Cys), rs779934093, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67086, REVEL 0.08, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R12H (p.Arg12His), rs376067868, ClinGen CA2935711, ClinVar RCV004521020, ESP rs376067868, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R12L (p.Arg12Leu), rs376067868, ClinGen CA357149553, ClinVar RCV003187104, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Cardiovascular phenotype
- K13E (p.Lys13Glu), TOPMed rs749801765, gnomAD rs749801765, REVEL 0.10, ESM-1b 0.00
- K13R (p.Lys13Arg), ExAC rs777747038, gnomAD rs777747038, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Cardiovascular phenotype
- A15T (p.Ala15Thr), rs981827180, ClinGen CA98684199, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67086, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not specified
- A15G (p.Ala15Gly), NCI-TCGA Cosmic COSV1011, Variant assessed as somatic; moderate impact.
- S18Y (p.Ser18Tyr), TOPMed rs1416526245, gnomAD rs1416526245, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- Q19* (p.Gln19Ter), rs778546497, ClinGen CA2935707, ClinVar RCV002471417, ExAC rs778546497, CADD 32.00, Uncertain significance
- Q19H (p.Gln19His), ExAC rs754554418, TOPMed rs754554418, gnomAD rs754554418, REVEL 0.04, ESM-1b 0.00, Likely benign
- Q19K (p.Gln19Lys), rs778546497, ExAC rs778546497, gnomAD rs778546497, REVEL 0.05, ESM-1b 0.00, Uncertain significance
- A21V (p.Ala21Val), rs753417723, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67088, ExAC rs753417723, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R23L (p.Arg23Leu), ExAC rs760208676, TOPMed rs760208676, gnomAD rs760208676, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R23P (p.Arg23Pro), ExAC rs760208676, TOPMed rs760208676, gnomAD rs760208676, REVEL 0.17, ESM-1b 0.00, Uncertain significance
- R23Q (p.Arg23Gln), cosmic curated COSV67086, ExAC rs760208676, TOPMed rs760208676, gnomAD rs760208676, REVEL 0.01, ESM-1b 0.00, Uncertain significance
- R23W (p.Arg23Trp), cosmic curated COSV67089, 1000Genomes rs371049748, ExAC rs371049748, TOPMed rs371049748, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not provided
- F24L (p.Phe24Leu), rs768133298, ClinGen CA2935700, ClinVar RCV002367367, ExAC rs768133298, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- F24V (p.Phe24Val), ExAC rs768133298, TOPMed rs768133298, gnomAD rs768133298, REVEL 0.04, ESM-1b 0.00, Uncertain significance
- F24S (p.Phe24Ser), gnomAD 4-64280183-A-G, REVEL 0.25, ESM-1b 0.00
- F24C (p.Phe24Cys), gnomAD 4-64280183-A-C, REVEL 0.13, ESM-1b 0.00
- I25L (p.Ile25Leu), TOPMed rs1724943576, ESM-1b 0.00, AlphaMissense 0.06
- I25M (p.Ile25Met), rs762325165, ClinGen CA357149413, ClinVar RCV002394216, ExAC rs762325165, REVEL 0.04, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- L26S (p.Leu26Ser), gnomAD 4-64280198-A-G, REVEL 0.33, ESM-1b 0.00
- D28G (p.Asp28Gly), NCI-TCGA Cosmic COSV6708, cosmic curated COSV67085, Ensembl rs1724942510, REVEL 0.07, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D28Y (p.Asp28Tyr), NCI-TCGA Cosmic COSV6708, TOPMed rs1724942712, gnomAD rs1724942712, REVEL 0.16, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D29E (p.Asp29Glu), 1000Genomes rs571536825, gnomAD rs571536825, REVEL 0.07, ESM-1b 0.00
- D29N (p.Asp29Asn), NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, NCI-TCGA Cosmic COSV6708, Ensembl rs1724942337, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- M30I (p.Met30Ile), rs1056139699, ClinGen CA98684132, ClinVar RCV002450017, TOPMed rs1056139699, REVEL 0.09, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- M30T (p.Met30Thr), TOPMed rs962845532, gnomAD rs962845532, REVEL 0.06, ESM-1b 0.00
- R31I (p.Arg31Ile), rs764415896, ClinGen CA2935697, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67086, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R31S (p.Arg31Ser), TOPMed rs911414673, gnomAD rs911414673, ESM-1b 0.00, AlphaMissense 0.19
- N32D (p.Asn32Asp), rs1724940055, ClinGen CA357149314, ClinVar RCV004521034, TOPMed rs1724940055, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Cardiovascular phenotype
- N32S (p.Asn32Ser), ExAC rs763048539, gnomAD rs763048539, REVEL 0.04, ESM-1b 0.00
- F33V (p.Phe33Val), NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, TOPMed rs1724939514, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- H34R (p.His34Arg), rs1464343344, ClinGen CA357149281, ClinVar RCV002364344, TOPMed rs1464343344, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- S37L (p.Ser37Leu), rs1461388254, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67087, gnomAD rs1461388254, REVEL 0.22, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K38R (p.Lys38Arg), rs2475861860, ClinGen CA357149221, ClinVar RCV004469459, REVEL 0.03, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- V40L (p.Val40Leu), rs1189145732, ClinGen CA357149206, ClinVar RCV002342959, Ensembl rs1189145732, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- S42* (p.Ser42Ter), ExAC rs773204861, gnomAD rs773204861, CADD 36.00
- S42T (p.Ser42Thr), ExAC rs745931892, gnomAD rs745931892, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- G44C (p.Gly44Cys), rs1192008303, NCI-TCGA Cosmic COSV6709, cosmic curated COSV67090, gnomAD rs1192008303, ESM-1b 0.00, AlphaMissense 0.15, Variant assessed as somatic; moderate impact.
- G44T (p.Gly44Thr), NCI-TCGA Cosmic COSV6708, cosmic curated COSV67087, Variant assessed as somatic; moderate impact.
- P45L (p.Pro45Leu), Ensembl rs1724936717, REVEL 0.08, ESM-1b 0.00
- P45S (p.Pro45Ser), rs61744866, ClinGen CA2935689, ClinVar RCV001693779, ClinVar RCV002386501, REVEL 0.07, ESM-1b 0.00, Benign/Likely benign, Cardiovascular phenotype; not specified; not provided
- L46R (p.Leu46Arg), TOPMed rs1724935947, ESM-1b 0.00, AlphaMissense 0.09
- R47I (p.Arg47Ile), rs1253517369, gnomAD rs1253517369, REVEL 0.03, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T49A (p.Thr49Ala), rs748941395, ClinGen CA2935686, ClinVar RCV003310684, ExAC rs748941395, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- T49I (p.Thr49Ile), rs779723331, ClinGen CA2935685, ClinVar RCV002396904, ExAC rs779723331, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P50S (p.Pro50Ser), rs202057496, ClinGen CA2935683, ClinVar RCV002389661, 1000Genomes rs202057496, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- A51E (p.Ala51Glu), gnomAD rs1724934195, REVEL 0.04, ESM-1b 0.00
- A51S (p.Ala51Ser), Ensembl rs1724934416, ESM-1b 0.00, AlphaMissense 0.08
- A51G (p.Ala51Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K53T (p.Lys53Thr), TOPMed rs1724934003, NCI-TCGA Cosmic COSV6709, cosmic curated COSV67090, ESM-1b 0.00, AlphaMissense 0.12, Variant assessed as somatic; moderate impact.
- H54L (p.His54Leu), ExAC rs768151844, gnomAD rs768151844, REVEL 0.08, ESM-1b 0.00, Uncertain significance
- H54N (p.His54Asn), Ensembl rs2109805482, REVEL 0.08, ESM-1b 0.00
- H54R (p.His54Arg), rs768151844, ClinGen CA357149026, ClinVar RCV002401031, ExAC rs768151844, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Cardiovascular phenotype
- S55* (p.Ser55Ter), NCI-TCGA TCGA novel, Ensembl rs1724933543, CADD 35.00, Variant assessed as somatic; high impact.
- K56N (p.Lys56Asn), rs2475861314, ClinGen CA357148997, ClinVar RCV004096933, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- K56Q (p.Lys56Gln), Ensembl rs1724933332, ESM-1b 0.00, AlphaMissense 0.14
- K56T (p.Lys56Thr), rs1029931574, ClinGen CA98684052, ClinVar RCV004142951, TOPMed rs1029931574, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype
- T57M (p.Thr57Met), rs1440574072, cosmic curated COSV67091, TOPMed rs1440574072, gnomAD rs1440574072, REVEL 0.07, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T58A (p.Thr58Ala), rs189087821, ClinGen CA2935681, cosmic curated COSV10116, ClinVar RCV001337070, REVEL 0.04, ESM-1b 0.00, Conflicting interpretations, not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul
- H59D (p.His59Asp), ExAC rs752006303, gnomAD rs752006303, REVEL 0.18, ESM-1b 0.00, Uncertain significance
- H59P (p.His59Pro), ESP rs149306973, ExAC rs149306973, TOPMed rs149306973, gnomAD rs149306973, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- H59Q (p.His59Gln), TOPMed rs781653727, gnomAD rs781653727, ESM-1b 0.00, AlphaMissense 0.16
- H59Y (p.His59Tyr), rs752006303, ClinGen CA357148970, ClinVar RCV003187105, ESM-1b 0.00, AlphaMissense 0.21, Uncertain significance, Cardiovascular phenotype
- F60C (p.Phe60Cys), rs2475861153, ClinGen CA357148955, ClinVar RCV002407859, REVEL 0.26, ESM-1b 0.58, Uncertain significance, Cardiovascular phenotype
- F60L (p.Phe60Leu), Ensembl rs1578011790, REVEL 0.13, ESM-1b 0.00
- E61D (p.Glu61Asp), ExAC rs765496405, TOPMed rs765496405, gnomAD rs765496405, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- E61K (p.Glu61Lys), rs966437961, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67088, TOPMed rs966437961, REVEL 0.22, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E61V (p.Glu61Val), rs200634401, ClinGen CA2935676, ClinVar RCV002410505, ClinVar RCV003317603, REVEL 0.48, ESM-1b 0.36, Uncertain significance, not provided; Cardiovascular phenotype
- I62T (p.Ile62Thr), TOPMed rs1453552815, gnomAD rs1453552815, REVEL 0.31, ESM-1b 1.00
- I62V (p.Ile62Val), Ensembl rs1304883042, REVEL 0.05, ESM-1b 0.00
- I64L (p.Ile64Leu), cosmic curated COSV10971, gnomAD rs1253613798, REVEL 0.21, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- F65L (p.Phe65Leu), Ensembl rs2109805259, ESM-1b 0.00, AlphaMissense 0.11
- F65S (p.Phe65Ser), ExAC rs759596298, TOPMed rs759596298, gnomAD rs759596298, REVEL 0.15, ESM-1b 0.00
- D66G (p.Asp66Gly), rs2475860946, ClinGen CA357148820, ClinVar RCV002423643, REVEL 0.35, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- D66H (p.Asp66His), gnomAD rs1249923376, ESM-1b 1.00, AlphaMissense 0.26
- A67T (p.Ala67Thr), NCI-TCGA Cosmic COSV6709, cosmic curated COSV67091, Variant assessed as somatic; moderate impact.
- A67G (p.Ala67Gly), Ensembl rs2109805201, NCI-TCGA Cosmic COSV6708, ESM-1b 1.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- Q68* (p.Gln68Ter), rs377068257, ClinGen CA2935673, ClinVar RCV002419763, ClinVar RCV005645390, CADD 36.00, Pathogenic
- Q68H (p.Gln68His), gnomAD rs1234079441, ESM-1b 0.00, AlphaMissense 0.09
- Q68R (p.Gln68Arg), TOPMed rs1724927791, ESM-1b 0.00, AlphaMissense 0.07
- T69A (p.Thr69Ala), ExAC rs772023619, gnomAD rs772023619, REVEL 0.09, ESM-1b 0.62
- T69R (p.Thr69Arg), TOPMed rs1724927093, ESM-1b 0.64, AlphaMissense 0.16, Uncertain significance, not specified
- Q72* (p.Gln72Ter), ExAC rs748027271, CADD 37.00
- Q72H (p.Gln72His), rs375333770, ClinGen CA2935670, cosmic curated COSV67086, ClinVar RCV002432717, REVEL 0.17, ESM-1b 0.47, Uncertain significance, not specified; not provided; Cardiovascular phenotype
- I73V (p.Ile73Val), ExAC rs768375298, TOPMed rs768375298, gnomAD rs768375298, REVEL 0.05, ESM-1b 0.00
- C74A (p.Cys74Ala), NCI-TCGA Cosmic COSV6708, cosmic curated COSV67089, Variant assessed as somatic; moderate impact.
- C74R (p.Cys74Arg), rs749103018, ClinGen CA2935668, ClinVar RCV002425848, ExAC rs749103018, REVEL 0.37, ESM-1b 0.75, Uncertain significance, Cardiovascular phenotype
- C74Y (p.Cys74Tyr), rs894970499, ClinGen CA98683982, NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, REVEL 0.28, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- C74G (p.Cys74Gly), NCI-TCGA Cosmic COSV6708, cosmic curated COSV67085, Variant assessed as somatic; moderate impact.
- I75V (p.Ile75Val), ESP rs371667621, ExAC rs371667621, TOPMed rs371667621, gnomAD rs371667621, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- L76P (p.Leu76Pro), ExAC rs755732929, gnomAD rs755732929, REVEL 0.25, ESM-1b 1.00
- D77H (p.Asp77His), rs1187463858, ClinGen CA357148611, cosmic curated COSV99059, ClinVar RCV003310679, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- D77Y (p.Asp77Tyr), TOPMed rs1187463858, gnomAD rs1187463858, ESM-1b 0.78, AlphaMissense 0.34, Uncertain significance, not provided
- K78E (p.Lys78Glu), cosmic curated COSV67089, gnomAD rs1395467237, REVEL 0.17, ESM-1b 0.81
- K78N (p.Lys78Asn), Ensembl rs267600205, ESM-1b 0.00, AlphaMissense 0.62
- V79A (p.Val79Ala), rs1285659878, ClinGen CA357150355, ClinVar RCV003213756, ClinVar RCV003224647, REVEL 0.16, ESM-1b 0.90, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 3; Cardiovascular phenotyp
- V79M (p.Val79Met), Ensembl rs2109680228, REVEL 0.13, ESM-1b 1.00
- T80A (p.Thr80Ala), rs1247421702, ClinGen CA357150352, ClinVar RCV002459549, TOPMed rs1247421702, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- Q81* (p.Gln81Ter), gnomAD rs1207417073, CADD 40.00
- Q81R (p.Gln81Arg), ExAC rs770608398, gnomAD rs770608398, REVEL 0.05, ESM-1b 0.00
- S82* (p.Ser82Ter), Ensembl rs868298746, CADD 38.00
- T84A (p.Thr84Ala), TOPMed rs939838974, REVEL 0.32, ESM-1b 1.00
- I85L (p.Ile85Leu), gnomAD rs1294718887, REVEL 0.05, ESM-1b 0.19
- H86P (p.His86Pro), gnomAD rs1428450213, REVEL 0.14, ESM-1b 0.75
- Q90K (p.Gln90Lys), rs2109679944, ClinGen CA357150287, ClinVar RCV001587026, Ensembl rs2109679944, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not provided
- Q90P (p.Gln90Pro), ExAC rs779284319, gnomAD rs779284319, REVEL 0.11, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- K91T (p.Lys91Thr), Ensembl rs2109679897, REVEL 0.21, ESM-1b 0.00
- F92C (p.Phe92Cys), ExAC rs755309877, TOPMed rs755309877, gnomAD rs755309877, REVEL 0.27, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- F92Y (p.Phe92Tyr), ExAC rs755309877, TOPMed rs755309877, gnomAD rs755309877, ESM-1b 1.00, AlphaMissense 0.25
- K94R (p.Lys94Arg), ExAC rs766580966, TOPMed rs766580966, gnomAD rs766580966, REVEL 0.10, ESM-1b 0.28
- K94T (p.Lys94Thr), ExAC rs766580966, TOPMed rs766580966, gnomAD rs766580966, ESM-1b 1.00, AlphaMissense 0.24
- C96Y (p.Cys96Tyr), cosmic curated COSV67090, 1000Genomes rs571015448, ExAC rs571015448, gnomAD rs571015448, REVEL 0.13, ESM-1b 0.00
- C96T (p.Cys96Thr), NCI-TCGA Cosmic COSV6708, cosmic curated COSV67086, Variant assessed as somatic; moderate impact.
- P97L (p.Pro97Leu), cosmic curated COSV67088, Ensembl rs1718414917, REVEL 0.29, ESM-1b 1.00
- P97S (p.Pro97Ser), rs757262911, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67087, ExAC rs757262911, REVEL 0.27, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P97T (p.Pro97Thr), ExAC rs757262911, TOPMed rs757262911, gnomAD rs757262911, ESM-1b 1.00, AlphaMissense 0.15
- W99* (p.Trp99Ter), ExAC rs765263983, gnomAD rs765263983, CADD 43.00, Pathogenic
- W99R (p.Trp99Arg), cosmic curated COSV10971, TOPMed rs1189462482, gnomAD rs1189462482, REVEL 0.28, ESM-1b 1.00
- Y100H (p.Tyr100His), cosmic curated COSV10116, TOPMed rs1718414014, ESM-1b 0.84, AlphaMissense 0.13, Uncertain significance, Cardiovascular phenotype
- P101L (p.Pro101Leu), cosmic curated COSV10116, Ensembl rs1718413836, REVEL 0.23, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- S102A (p.Ser102Ala), TOPMed rs1718413682, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R103* (p.Arg103Ter), cosmic curated COSV67086, TOPMed rs1355389485, gnomAD rs1355389485, CADD 36.00
- R103Q (p.Arg103Gln), rs1331118766, ClinGen CA357145855, ClinVar RCV004469460, TOPMed rs1331118766, REVEL 0.19, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- V104A (p.Val104Ala), rs1577879424, ClinGen CA357145845, ClinVar RCV004521018, TOPMed rs1577879424, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- G105A (p.Gly105Ala), NCI-TCGA Cosmic COSV6708, cosmic curated COSV67086, Variant assessed as somatic; moderate impact.
- G105T (p.Gly105Thr), NCI-TCGA Cosmic COSV1011, NCI-TCGA Cosmic COSV6708, cosmic curated COSV67089, Variant assessed as somatic; moderate impact.
- G105R (p.Gly105Arg), rs2476169941, ClinGen CA357145838, ClinVar RCV003328779, ESM-1b 0.00, AlphaMissense 0.55, Uncertain significance, not provided
- G105V (p.Gly105Val), cosmic curated COSV11596, gnomAD rs1718412319, REVEL 0.26, ESM-1b 0.00
- L106M (p.Leu106Met), gnomAD rs1174594275, REVEL 0.20, ESM-1b 1.00
- L108I (p.Leu108Ile), ExAC rs766138708, gnomAD rs766138708, ESM-1b 0.00, AlphaMissense 0.10
- L108P (p.Leu108Pro), TOPMed rs1577879377, gnomAD rs1577879377, REVEL 0.36, ESM-1b 0.66
- L108Q (p.Leu108Gln), TOPMed rs1577879377, gnomAD rs1577879377, ESM-1b 0.75, AlphaMissense 0.14
- E109* (p.Glu109Ter), ExAC rs760350383, TOPMed rs760350383, gnomAD rs760350383, Uncertain significance
- E109K (p.Glu109Lys), rs760350383, ClinGen CA2935600, ClinVar RCV002324954, ExAC rs760350383, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- C110* (p.Cys110Ter), Ensembl rs1560503065
- C110A (p.Cys110Ala), NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, Variant assessed as somatic; moderate impact.
- C110T (p.Cys110Thr), rs781536953, NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, ClinGen CA2935570, AlphaMissense 0.14, MetaLR 0.23, Uncertain significance
- G111D (p.Gly111Asp), rs1717997596, ClinGen CA357144898, cosmic curated COSV10469, ClinVar RCV004355422, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Cardiovascular phenotype
- G112R (p.Gly112Arg), rs772981599, ClinGen CA2935579, cosmic curated COSV67087, ClinVar RCV002320972, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype
- P113A (p.Pro113Ala), NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, TOPMed rs2085611729, gnomAD rs2085611729, REVEL 0.07, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P113H (p.Pro113His), rs1474037096, ClinGen CA357144887, ClinVar RCV003187108, gnomAD rs1474037096, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P113L (p.Pro113Leu), cosmic curated COSV67087, gnomAD rs1474037096, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance
- F114C (p.Phe114Cys), Ensembl rs1717996398, REVEL 0.17, ESM-1b 0.00
- K116E (p.Lys116Glu), gnomAD rs1256323949, REVEL 0.14, ESM-1b 0.00
- K116R (p.Lys116Arg), gnomAD rs1188457570, REVEL 0.06, ESM-1b 0.00
- D117N (p.Asp117Asn), gnomAD rs1484106689, REVEL 0.38, ESM-1b 0.50
- D117V (p.Asp117Val), ExAC rs761398203, gnomAD rs761398203, REVEL 0.35, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- D117Y (p.Asp117Tyr), gnomAD rs1484106689, REVEL 0.33, ESM-1b 1.00
- Y118C (p.Tyr118Cys), rs552039384, ClinGen CA2935575, ClinVar RCV002459467, 1000Genomes rs552039384, REVEL 0.08, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- Y118H (p.Tyr118His), ExAC rs773666554, gnomAD rs773666554, REVEL 0.04, ESM-1b 0.00
- I119F (p.Ile119Phe), ExAC rs749746855, TOPMed rs749746855, gnomAD rs749746855, REVEL 0.05, ESM-1b 0.00
- I119V (p.Ile119Val), cosmic curated COSV67090, ExAC rs749746855, TOPMed rs749746855, gnomAD rs749746855, REVEL 0.02, ESM-1b 0.00
- T120G (p.Thr120Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T120C (p.Thr120Cys), NCI-TCGA Cosmic COSV1011, cosmic curated COSV10116, Variant assessed as somatic; moderate impact.
- Q122E (p.Gln122Glu), rs139611710, ClinGen CA2935573, ClinVar RCV002452476, ESP rs139611710, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- S123R (p.Ser123Arg), ExAC rs746216781, TOPMed rs746216781, gnomAD rs746216781, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- I124T (p.Ile124Thr), rs1381150700, ClinGen CA357144811, ClinVar RCV004521021, gnomAD rs1381150700, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
Public TECRL analysis runs
- TECRL analysis run — TECRL (622 variants) — completed 2026-10-09