TFRC (Transferrin receptor protein 1) variants and mutations
TFRC (also known as Transferrin receptor protein 1) is a human protein-coding gene encoding a transferrin receptor protein 1 protein. Its annotated function is cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. It is annotated at the cell membrane. This analysis covers 1,156 TFRC variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes TFRC-related combined immunodeficiency, type 2 diabetes mellitus, and mucopolysaccharidosis type 2. Example TFRC variants include M2I, M2L, and Q4L.
Variant analysis overview
- Gene: TFRC
- Protein: Transferrin receptor protein 1
- UniProt accession: P02786
- Organism: Homo sapiens
- Variants analyzed: 1156
- Variant scope: all variants
- Completed: 2026-09-16
Variant and mutation evidence
- Variant composition: 979 unspecified-consequence records; 11 frameshift variants; 103 synonymous variants; 105 missense variants; 2 in-frame deletions; 2 stop lost; 1 in-frame insertions; 3 splice-region variants; 1 stop-gained variants; 1 substitution
- Prediction scores: 848 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: TFRC-related combined immunodeficiency, type 2 diabetes mellitus, mucopolysaccharidosis type 2, diabetes mellitus, combined immunodeficiency, Combined T and B cell immunodeficiency, diabetic retinopathy, neurodegenerative disease, prostate adenocarcinoma, non-small cell lung carcinoma, hepatocellular carcinoma, breast carcinoma.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 9 post-translational modification sites.
- Structural context: 136 variants have structural context.
- PTM context: 17 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, MaveDB, LitVar.
Notable TFRC variants
Examples include M2I, M2L, Q4L, A5G, A5T, R6S, R6T, S7T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M2I (p.Met2Ile), rs748873584, ClinGen CA2778436, ClinVar RCV003550459, ExAC rs748873584, REVEL 0.20, CADD 24.30, Uncertain significance, not provided
- M2L (p.Met2Leu), TOPMed rs1213105471, gnomAD rs1213105471, REVEL 0.17, CADD 24.80, Uncertain significance, not provided
- Q4L (p.Gln4Leu), gnomAD rs1405410644, REVEL 0.11, CADD 24.10
- A5G (p.Ala5Gly), cosmic curated COSV64055, REVEL 0.20, CADD 27.10
- A5T (p.Ala5Thr), cosmic curated COSV10820, gnomAD rs1192505797, REVEL 0.16, CADD 23.70
- R6S (p.Arg6Ser), ExAC rs777286869, gnomAD rs777286869
- R6T (p.Arg6Thr), gnomAD rs1478570989, REVEL 0.39, CADD 25.50
- S7T (p.Ser7Thr), ExAC rs755597603, gnomAD rs755597603, REVEL 0.08, CADD 20.20
- A8G (p.Ala8Gly), Ensembl rs1032891432
- A8T (p.Ala8Thr), cosmic curated COSV64055, ExAC rs748123250, REVEL 0.03, CADD 18.80
- F9C (p.Phe9Cys), Ensembl rs1718762936
- F9S (p.Phe9Ser), cosmic curated COSV64054
- F9V (p.Phe9Val), TOPMed rs1718763182
- N11K (p.Asn11Lys), rs2473999376, ClinGen CA355580000, ClinVar RCV003030681, Uncertain significance, not provided
- L12F (p.Leu12Phe), ExAC rs751321499, gnomAD rs751321499, REVEL 0.12, CADD 33.00
- G15R (p.Gly15Arg), gnomAD rs1278427327, REVEL 0.18, CADD 24.50
- G15V (p.Gly15Val), cosmic curated COSV64055
- E16D (p.Glu16Asp), ExAC rs768479499, gnomAD rs768479499, REVEL 0.11, CADD 15.20, Uncertain significance, not provided
- P17L (p.Pro17Leu), TOPMed rs1718596370
- P17S (p.Pro17Ser), gnomAD rs1344029219
- S19L (p.Ser19Leu), cosmic curated COSV64056
- Y20H (p.Tyr20His), rs863225436, ClinGen CA279895, ClinVar RCV000202386, ClinVar RCV000203305, REVEL 0.45, CADD 24.80, Conflicting interpretations, TFRC-related combined immunodeficiency; not provided
- T21N (p.Thr21Asn), Ensembl rs1044574230
- R22Q (p.Arg22Gln), rs576156970, ClinGen CA2778407, ClinVar RCV003545787, 1000Genomes rs576156970, REVEL 0.39, CADD 25.10, Uncertain significance, not provided
- R22W (p.Arg22Trp), rs373123870, ClinGen CA2778408, cosmic curated COSV10527, ClinVar RCV003854920, REVEL 0.55, CADD 25.70, Uncertain significance, not provided
- F23L (p.Phe23Leu), Ensembl rs1718593230
- S24C (p.Ser24Cys), ExAC rs757471820, REVEL 0.30, CADD 25.10
- S24R (p.Ser24Arg), ESP rs374961824, ExAC rs374961824, TOPMed rs374961824, gnomAD rs374961824, REVEL 0.30, CADD 22.70
- L25V (p.Leu25Val), ExAC rs764168903, TOPMed rs764168903, gnomAD rs764168903, REVEL 0.09, CADD 19.00
- A26P (p.Ala26Pro), Ensembl rs917096580
- R27L (p.Arg27Leu), rs1041899549, ClinGen CA90762102, cosmic curated COSV10746, ClinVar RCV001988963, REVEL 0.23, CADD 25.10, Uncertain significance, not provided
- R27Q (p.Arg27Gln), TOPMed rs1041899549, gnomAD rs1041899549, REVEL 0.08, CADD 21.70, Uncertain significance, not provided
- R27W (p.Arg27Trp), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10078, TOPMed rs1170386829, gnomAD rs1170386829, REVEL 0.38, CADD 31.00, Variant assessed as somatic; moderate impact.
- Q28R (p.Gln28Arg), ExAC rs761118538, gnomAD rs761118538, REVEL 0.10, CADD 24.00
- V29L (p.Val29Leu), ESP rs146744160, gnomAD rs146744160, REVEL 0.03, CADD 18.40, Uncertain significance, not provided; Inborn genetic diseases
- D30N (p.Asp30Asn), 1000Genomes rs545061104, ExAC rs545061104, REVEL 0.23, CADD 26.20
- G31D (p.Gly31Asp), gnomAD rs1718589969, REVEL 0.43, CADD 25.60
- D32G (p.Asp32Gly), cosmic curated COSV64053, ExAC rs769447421, TOPMed rs769447421, gnomAD rs769447421, REVEL 0.18, CADD 25.60
- D32N (p.Asp32Asn), rs772905975, ClinGen CA2778398, ClinVar RCV003829499, ExAC rs772905975, REVEL 0.20, CADD 25.00, Uncertain significance, not provided
- H35N (p.His35Asn), gnomAD rs1718588661, REVEL 0.18, CADD 24.80
- H35P (p.His35Pro), Ensembl rs367916085
- H35Q (p.His35Gln), ExAC rs776032804, gnomAD rs776032804, REVEL 0.13, CADD 3.52, Likely benign
- E37G (p.Glu37Gly), rs1718587665, ClinGen CA355579426, ClinVar RCV003665776, Ensembl rs1718587665, REVEL 0.48, CADD 28.20, Uncertain significance, not provided
- M38V (p.Met38Val), rs1477368569, ClinGen CA355579421, ClinVar RCV002796885, TOPMed rs1477368569, REVEL 0.14, CADD 23.10, Uncertain significance, not provided
- L40P (p.Leu40Pro), TOPMed rs1718586957
- A41G (p.Ala41Gly), rs1481317754, ClinGen CA355579394, ClinVar RCV001964085, TOPMed rs1481317754, REVEL 0.19, CADD 22.80, Uncertain significance, not provided
- V42E (p.Val42Glu), Ensembl rs1718586021, REVEL 0.04, CADD 5.03
- V42I (p.Val42Ile), rs1718586256, ClinGen CA355579393, ClinVar RCV001351669, Ensembl rs1718586256, REVEL 0.07, CADD 14.70, Uncertain significance, not provided
- D43G (p.Asp43Gly), TOPMed rs1718585813
- E44A (p.Glu44Ala), gnomAD rs1354197677, REVEL 0.10, CADD 23.30
- E44K (p.Glu44Lys), Ensembl rs1416701248, REVEL 0.13, CADD 23.30
- E45D (p.Glu45Asp), 1000Genomes rs552921034, ExAC rs552921034, TOPMed rs552921034, gnomAD rs552921034, REVEL 0.10, CADD 14.80, Uncertain significance, not provided
- E46G (p.Glu46Gly), TOPMed rs1298004536, gnomAD rs1298004536, REVEL 0.16, CADD 24.90
- E46Q (p.Glu46Gln), rs541010181, ClinGen CA2778391, ClinVar RCV002031205, 1000Genomes rs541010181, REVEL 0.13, CADD 23.80, Uncertain significance, not provided
- N47D (p.Asn47Asp), 1000Genomes rs199637290, REVEL 0.05, CADD 17.70
- N47K (p.Asn47Lys), rs778795194, ClinGen CA2778387, ClinVar RCV002932232, ExAC rs778795194, REVEL 0.03, CADD 10.70, Uncertain significance, not provided
- N47S (p.Asn47Ser), ExAC rs745648096, TOPMed rs745648096, gnomAD rs745648096, REVEL 0.02, CADD 0.31
- A48T (p.Ala48Thr), gnomAD rs1166097455
- N50S (p.Asn50Ser), ExAC rs757559861, TOPMed rs757559861, gnomAD rs757559861, REVEL 0.09, CADD 1.19
- T52R (p.Thr52Arg), rs1184656094, ClinGen CA355579258, ClinVar RCV002572964, TOPMed rs1184656094, REVEL 0.02, CADD 1.99, Uncertain significance, not provided
- K53E (p.Lys53Glu), gnomAD rs1473065630, REVEL 0.04, CADD 3.19
- A54T (p.Ala54Thr), Ensembl rs1718581382, REVEL 0.04, CADD 3.55
- A54V (p.Ala54Val), Ensembl rs1718581124
- A54G (p.Ala54Gly), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10078, Variant assessed as somatic; moderate impact.
- N55S (p.Asn55Ser), cosmic curated COSV64054, TOPMed rs976470564, gnomAD rs976470564, REVEL 0.04, CADD 0.00, Uncertain significance, not provided
- V56D (p.Val56Asp), Ensembl rs1718580298
- P59R (p.Pro59Arg), rs777738270, ClinGen CA2778384, ClinVar RCV003867410, ExAC rs777738270, REVEL 0.03, CADD 6.45, Uncertain significance, not provided
- K60E (p.Lys60Glu), rs368317794, ClinGen CA2778383, ClinVar RCV002760173, ClinVar RCV006397092, REVEL 0.15, CADD 14.50, Uncertain significance, not provided; Inborn genetic diseases
- K60R (p.Lys60Arg), ESP rs140011138, ExAC rs140011138, TOPMed rs140011138, gnomAD rs140011138, REVEL 0.01, CADD 0.70
- R61K (p.Arg61Lys), cosmic curated COSV10466
- C62A (p.Cys62Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact., in IMD46
- C62G (p.Cys62Gly), NCI-TCGA Cosmic COSV6405, cosmic curated COSV64055, TOPMed rs1170386829, gnomAD rs1170386829, Variant assessed as somatic; moderate impact.
- S63N (p.Ser63Asn), gnomAD rs1670954469, REVEL 0.03, CADD 0.07
- G64E (p.Gly64Glu), ExAC rs766686827, gnomAD rs766686827, REVEL 0.16, CADD 15.40
- G64R (p.Gly64Arg), ExAC rs751923733, TOPMed rs751923733, gnomAD rs751923733, REVEL 0.06, CADD 8.50
- S65R (p.Ser65Arg), gnomAD rs1390090823, REVEL 0.10, CADD 13.40
- C67R (p.Cys67Arg), TOPMed rs1718577555
- C67Y (p.Cys67Tyr), gnomAD rs1294657204, REVEL 0.31, CADD 18.00
- Y68C (p.Tyr68Cys), ExAC rs762924023, TOPMed rs762924023, gnomAD rs762924023, NCI-TCGA TCGA novel, REVEL 0.03, CADD 8.31, Variant assessed as somatic; moderate impact.
- G69R (p.Gly69Arg), gnomAD rs1392883593, REVEL 0.32, CADD 13.90
- T70S (p.Thr70Ser), rs1015007364, ClinGen CA90761903, ClinVar RCV003733320, TOPMed rs1015007364, REVEL 0.03, CADD 5.20, Uncertain significance, not provided
- I71T (p.Ile71Thr), TOPMed rs1718575802, gnomAD rs1718575802, REVEL 0.08, CADD 8.65, Uncertain significance, not provided
- I71V (p.Ile71Val), rs1006096745, ClinGen CA90761899, ClinVar RCV003881557, ClinVar RCV005752320, REVEL 0.07, CADD 1.40, Uncertain significance, not provided; Inborn genetic diseases
- A72G (p.Ala72Gly), ExAC rs760231105, gnomAD rs760231105, REVEL 0.25, CADD 22.30, Uncertain significance
- A72S (p.Ala72Ser), rs763556153, ClinGen CA2778375, ClinVar RCV003854598, ClinVar RCV004369492, REVEL 0.26, CADD 22.70, Uncertain significance, Inborn genetic diseases; not provided
- A72T (p.Ala72Thr), ExAC rs763556153, TOPMed rs763556153, gnomAD rs763556153, REVEL 0.27, CADD 21.40, Uncertain significance
- A72V (p.Ala72Val), rs760231105, ClinGen CA355578987, cosmic curated COSV10820, ClinVar RCV002766885, AlphaMissense 0.10, MetaLR 0.27, Uncertain significance, not provided
- V73M (p.Val73Met), rs775628655, ClinGen CA2778373, ClinVar RCV002303637, ExAC rs775628655, REVEL 0.02, CADD 8.08, Uncertain significance, not provided
- V75I (p.Val75Ile), cosmic curated COSV10746, ExAC rs774319873, TOPMed rs774319873, gnomAD rs774319873, REVEL 0.04, CADD 0.02, Conflicting interpretations, not provided; Inborn genetic diseases
- F76L (p.Phe76Leu), cosmic curated COSV10969
- F77S (p.Phe77Ser), rs1560089709, ClinGen CA355578927, ClinVar RCV003723534, TOPMed rs1560089709, REVEL 0.58, CADD 25.70, Uncertain significance, not provided
- L78F (p.Leu78Phe), ExAC rs749512801, gnomAD rs749512801, REVEL 0.06, CADD 14.90
- I79M (p.Ile79Met), Ensembl rs1718572134, REVEL 0.22, CADD 19.90
- I79V (p.Ile79Val), ExAC rs778050850, gnomAD rs778050850, REVEL 0.12, CADD 23.30
- G80R (p.Gly80Arg), gnomAD rs1478086218, REVEL 0.54, CADD 34.00
- F81Y (p.Phe81Tyr), ExAC rs748275203, gnomAD rs748275203
- M82V (p.Met82Val), TOPMed rs1718457613
- M82I (p.Met82Ile), gnomAD 3-196027243-C-T, CADD 6.48
- M82T (p.Met82Thr), rs1714828900, gnomAD 3-196027244-A-G, CADD 9.83
- M82L (p.Met82Leu), rs1364884936, gnomAD 3-196027248-T-A, CADD 3.71
- I83F (p.Ile83Phe), rs367854499, ClinGen CA90760866, ClinVar RCV002855175, ESP rs367854499, AlphaMissense 0.20, MetaLR 0.17, Uncertain significance, Inborn genetic diseases
- G84A (p.Gly84Ala), rs1325960959, ClinGen CA355578716, ClinVar RCV003700788, gnomAD rs1325960959, REVEL 0.41, CADD 25.00, Uncertain significance, not provided
- G84D (p.Gly84Asp), cosmic curated COSV10746
- Y85C (p.Tyr85Cys), Ensembl rs780608997, REVEL 0.47, CADD 28.00
- G87A (p.Gly87Ala), gnomAD rs1560088441, REVEL 0.11, CADD 16.80
- G87C (p.Gly87Cys), cosmic curated COSV99061
- Y88C (p.Tyr88Cys), rs781268657, ClinGen CA2778346, ClinVar RCV001994172, ExAC rs781268657, REVEL 0.30, CADD 24.70, Uncertain significance, not provided
- G91V (p.Gly91Val), cosmic curated COSV10651
- G91G (p.Gly91Gly), rs752000111, gnomAD 3-196027255-A-T, CADD 3.64
- G91C (p.Gly91Cys), gnomAD 3-196027257-C-A, CADD 14.30
- V92G (p.Val92Gly), Ensembl rs1577250314
- V92I (p.Val92Ile), ExAC rs747559194, TOPMed rs747559194, gnomAD rs747559194, cosmic curated COSV10466, REVEL 0.08, CADD 5.06
- E93* (p.Glu93Ter), ExAC rs780538474, gnomAD rs780538474, CADD 34.00
- P94Q (p.Pro94Gln), Ensembl rs1718454843
- K95R (p.Lys95Arg), ExAC rs758750274, TOPMed rs758750274, gnomAD rs758750274, REVEL 0.14, CADD 12.80
- E97Q (p.Glu97Gln), rs765455849, ClinGen CA2778340, ClinVar RCV002716822, ClinVar RCV006397085, REVEL 0.06, CADD 1.65, Uncertain significance, not provided; Inborn genetic diseases
- C98R (p.Cys98Arg), Ensembl rs1718453525, REVEL 0.40, CADD 23.90
- R100I (p.Arg100Ile), TOPMed rs886727487, gnomAD rs886727487, REVEL 0.07, CADD 1.58, Uncertain significance, not provided
- R100K (p.Arg100Lys), cosmic curated COSV64054
- L101P (p.Leu101Pro), Ensembl rs1718452726
- L101V (p.Leu101Val), rs377515204, ClinGen CA90760792, ClinVar RCV003864858, Ensembl rs377515204, CADD 8.58, Uncertain significance, not provided
- L101del (p.Leu101del), rs1291299875, gnomAD 3-196027234-GAGA-, CADD 1.39
- L101F (p.Leu101Phe), gnomAD 3-196027242-G-A, CADD 6.91
- A102E (p.Ala102Glu), rs767186270, ClinGen CA2778337, ClinVar RCV003172719, ExAC rs767186270, REVEL 0.12, CADD 3.82, Uncertain significance, Inborn genetic diseases
- A102K (p.Ala102Lys), rs2473991062, ClinGen CA2580070585, ClinVar RCV003118057, Uncertain significance, not provided
- A102S (p.Ala102Ser), ExAC rs752349775, TOPMed rs752349775, gnomAD rs752349775, REVEL 0.03, CADD 0.42, Uncertain significance
- A102T (p.Ala102Thr), rs752349775, ClinGen CA2778339, ClinVar RCV003172714, ExAC rs752349775, REVEL 0.03, CADD 2.66, Uncertain significance, Inborn genetic diseases
- A102A (p.Ala102Ala), rs1329672391, gnomAD 3-196027225-C-T, CADD 1.81
- A102V (p.Ala102Val), rs760181667, gnomAD 3-196027226-G-A, CADD 0.67
- G103A (p.Gly103Ala), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10078, Variant assessed as somatic; moderate impact.
- T104A (p.Thr104Ala), rs201408488, ClinGen CA2778334, cosmic curated COSV64054, ClinVar RCV002102645, REVEL 0.04, CADD 0.68, Conflicting interpretations, not provided; TFRC-related combined immunodeficiency; not specified
- T104I (p.Thr104Ile), rs2473991029, ClinGen CA355578286, ClinVar RCV002295230, REVEL 0.08, CADD 6.34, Uncertain significance, not provided
- T104T (p.Thr104Thr), rs753474128, gnomAD 3-196027231-C-G, CADD 0.87
- T104M (p.Thr104Met), rs181416999, gnomAD 3-196027232-G-A, CADD 0.41
- T104R (p.Thr104Arg), rs181416999, gnomAD 3-196027232-G-C, CADD 1.04
- E105D (p.Glu105Asp), cosmic curated COSV64056
- E105G (p.Glu105Gly), gnomAD rs1339360961
- E105K (p.Glu105Lys), rs773087880, ExAC rs773087880, TOPMed rs773087880, gnomAD rs773087880, REVEL 0.06, CADD 8.22, Variant assessed as somatic; moderate impact.
- S106C (p.Ser106Cys), TOPMed rs1193739123, gnomAD rs1193739123, REVEL 0.05, CADD 14.30
- S106F (p.Ser106Phe), rs945770797, gnomAD 3-196027190-G-A, CADD 18.80
- S106Q (p.Ser106Gln), gnomAD 3-196027218-AT-A, CADD 17.70
- P107S (p.Pro107Ser), rs769424131, ClinGen CA2778331, ClinVar RCV001928603, ExAC rs769424131, REVEL 0.10, CADD 0.00, Uncertain significance, not provided
- P107H (p.Pro107His), rs1265818860, gnomAD 3-196027219-TG-T, CADD 17.70
- P107L (p.Pro107Leu), gnomAD 3-196027220-G-A, CADD 6.63
- P107Q (p.Pro107Gln), gnomAD 3-196027220-G-T, CADD 5.92
- P107T (p.Pro107Thr), rs1480397896, gnomAD 3-196027221-G-T, CADD 1.47
- V108L (p.Val108Leu), gnomAD rs1247166038, REVEL 0.06, CADD 2.34
- R109S (p.Arg109Ser), TOPMed rs1718449368
- R109R (p.Arg109Arg), rs774931765, gnomAD 3-196027222-C-T, CADD 1.56
- R109M (p.Arg109Met), gnomAD 3-196027223-C-A, CADD 10.30
- R109K (p.Arg109Lys), rs1431970602, gnomAD 3-196027223-C-T, CADD 1.55
- R109G (p.Arg109Gly), gnomAD 3-196027224-T-C, CADD 14.40
- R109W (p.Arg109Trp), gnomAD 3-196027224-T-A, CADD 15.20
- E110D (p.Glu110Asp), TOPMed rs1718449178, gnomAD rs1718449178, REVEL 0.06, CADD 0.02
- E110G (p.Glu110Gly), cosmic curated COSV64055
- P112L (p.Pro112Leu), gnomAD rs1308442159, REVEL 0.04, CADD 2.69
- P112S (p.Pro112Ser), rs1055233025, ClinGen CA90760737, ClinVar RCV003713765, Ensembl rs1055233025, AlphaMissense 0.07, MetaLR 0.02, Uncertain significance, not provided
- P112P (p.Pro112Pro), rs1260192340, gnomAD 3-196027198-C-T, CADD 2.03
- P112Q (p.Pro112Gln), gnomAD 3-196027199-G-T, CADD 16.10
- G113C (p.Gly113Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D115V (p.Asp115Val), rs763676986, gnomAD 3-196027229-T-A, CADD 3.66
- F116L (p.Phe116Leu), ExAC rs762067918, TOPMed rs762067918, gnomAD rs762067918, REVEL 0.04, CADD 0.00, Likely benign, Inborn genetic diseases
- F116Y (p.Phe116Tyr), TOPMed rs1718448034, REVEL 0.16, CADD 6.88
- P117A (p.Pro117Ala), rs1406331744, ClinGen CA355578035, ClinVar RCV002046270, TOPMed rs1406331744, REVEL 0.13, CADD 13.10, Uncertain significance, not provided
- P117H (p.Pro117His), cosmic curated COSV10078
- P117L (p.Pro117Leu), ExAC rs776799647, TOPMed rs776799647, gnomAD rs776799647, REVEL 0.13, CADD 10.60, Uncertain significance, not provided
- P117R (p.Pro117Arg), ExAC rs776799647, TOPMed rs776799647, gnomAD rs776799647, REVEL 0.14, CADD 14.40, Uncertain significance, not provided
- P117S (p.Pro117Ser), cosmic curated COSV64054, TOPMed rs1406331744, REVEL 0.10, CADD 14.70, Uncertain significance, not provided
- R120C (p.Arg120Cys), ExAC rs768793663, TOPMed rs768793663, gnomAD rs768793663, REVEL 0.11, CADD 15.10, Uncertain significance, not provided
- R120H (p.Arg120His), rs747082551, ClinGen CA2778327, ClinVar RCV003116869, ExAC rs747082551, REVEL 0.06, CADD 8.70, Uncertain significance, not provided
- R120L (p.Arg120Leu), ExAC rs747082551, TOPMed rs747082551, gnomAD rs747082551, REVEL 0.08, CADD 7.75, Uncertain significance
- R121C (p.Arg121Cys), rs779942371, ClinGen CA2778326, cosmic curated COSV64054, ClinVar RCV002023082, REVEL 0.04, CADD 16.40, Uncertain significance, not provided
- R121G (p.Arg121Gly), ExAC rs779942371, TOPMed rs779942371, gnomAD rs779942371, REVEL 0.03, CADD 12.30, Uncertain significance
- R121H (p.Arg121His), rs772641140, ClinGen CA2778325, NCI-TCGA Cosmic COSV1007, NCI-TCGA Cosmic COSV6405, REVEL 0.02, CADD 0.78, Uncertain significance, not provided
- L122F (p.Leu122Phe), ExAC rs746321395, TOPMed rs746321395, gnomAD rs746321395, REVEL 0.07, CADD 3.14, Likely benign
- L122P (p.Leu122Pro), rs1258047132, gnomAD 3-196027185-GGA-G, CADD 19.20
- L122L (p.Leu122Leu), rs1264848619, gnomAD 3-196027186-G-A, CADD 0.41
- L122H (p.Leu122His), rs2108620419, gnomAD 3-196027187-A-T, CADD 13.40
- L122V (p.Leu122Val), rs1325912482, gnomAD 3-196027188-G-C, CADD 9.32
- Y123C (p.Tyr123Cys), TOPMed rs1718444408, REVEL 0.12, CADD 18.30
Public TFRC analysis runs
- TFRC analysis run — TFRC (1,156 variants) — completed 2026-09-16