ID3 (Q02535) variants and mutations
ID3 (also known as Q02535) is a human protein-coding gene encoding a DNA-binding protein inhibitor ID-3 protein. It restrains basic helix-loop-helix transcription factors and thereby helps control lymphocyte development, cell differentiation, and proliferation. Somatic inactivation is recurrent in Burkitt lymphoma and related B-cell cancers, where it contributes to abnormal growth programs. This analysis covers 390 ID3 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes Burkitt lymphoma, lymphoma, and non-Hodgkin lymphoma. Example ID3 variants include K2K, A3T, and A3V.
Variant analysis overview
- Gene: ID3
- Protein: Q02535
- UniProt accession: Q02535
- Organism: Homo sapiens
- Variants analyzed: 390
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 219 unspecified-consequence records; 1 stop lost; 64 missense variants; 88 synonymous variants; 4 stop-gained variants; 10 frameshift variants; 2 splice-region variants; 2 in-frame insertions
- Prediction scores: 317 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Burkitt lymphoma, lymphoma, non-Hodgkin lymphoma, diffuse large B-cell lymphoma, hypothyroidism, B-cell chronic lymphocytic leukemia, Abnormality of the skeletal system, acute myeloid leukemia, small cell lung carcinoma, non-small cell lung carcinoma, hepatocellular carcinoma, breast carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains.
- Structural context: 178 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable ID3 variants
Examples include K2K, A3T, A3V, A3A, L4R, L4V, L4L, S5I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- K2K (p.Lys2Lys), rs146156581, gnomAD 1-23559421-C-T, CADD 11.60
- A3T (p.Ala3Thr), rs1381240589, NCI-TCGA Cosmic COSV6580, gnomAD rs1381240589, REVEL 0.70, MetaLR 0.69, Variant assessed as somatic; moderate impact.
- A3V (p.Ala3Val), TOPMed rs1307838543, gnomAD rs1307838543, REVEL 0.58, MetaLR 0.61
- A3A (p.Ala3Ala), rs375749860, gnomAD 1-23559418-C-T, CADD 10.90
- L4R (p.Leu4Arg), TOPMed rs1643691940, gnomAD rs1643691940, REVEL 0.38, MetaLR 0.25
- L4V (p.Leu4Val), 1000Genomes rs199661785, ESP rs199661785, ExAC rs199661785, TOPMed rs199661785, REVEL 0.07, MetaLR 0.06
- L4L (p.Leu4Leu), rs1286097684, gnomAD 1-23559415-C-T, CADD 12.00
- S5I (p.Ser5Ile), ExAC rs757175117, gnomAD rs757175117, REVEL 0.66, MetaLR 0.56
- S5R (p.Ser5Arg), gnomAD 1-23559412-G-T, REVEL 0.49, MetaLR 0.50
- S5N (p.Ser5Asn), gnomAD 1-23559413-C-T, REVEL 0.36, MetaLR 0.59
- P6L (p.Pro6Leu), TOPMed rs1570499535
- P6S (p.Pro6Ser), rs2523158699, ClinGen CA338991780, ClinVar RCV004355915, REVEL 0.63, MetaLR 0.53, Uncertain significance, not specified
- P6P (p.Pro6Pro), gnomAD 1-23559409-C-A, CADD 8.95
- V7A (p.Val7Ala), TOPMed rs922296615, gnomAD rs922296615, REVEL 0.25, MetaLR 0.30
- V7V (p.Val7Val), gnomAD 1-23559406-C-T, CADD 10.60
- R8C (p.Arg8Cys), rs1643691416, ClinGen CA338991739, ClinVar RCV004257742, TOPMed rs1643691416, REVEL 0.62, MetaLR 0.47, Uncertain significance, not specified
- R8H (p.Arg8His), ExAC rs755804779, TOPMed rs755804779, gnomAD rs755804779, REVEL 0.69, MetaLR 0.60
- R8R (p.Arg8Arg), rs751826103, gnomAD 1-23559403-G-A, CADD 12.70
- G9C (p.Gly9Cys), 1000Genomes rs528654688, ExAC rs528654688, TOPMed rs528654688, gnomAD rs528654688, REVEL 0.33, MetaLR 0.26
- G9S (p.Gly9Ser), 1000Genomes rs528654688, ExAC rs528654688, TOPMed rs528654688, gnomAD rs528654688, REVEL 0.11, MetaLR 0.10
- G9G (p.Gly9Gly), rs763137301, gnomAD 1-23559400-G-C, CADD 12.90
- G9D (p.Gly9Asp), gnomAD 1-23559401-C-T, REVEL 0.21, MetaLR 0.33
- C10S (p.Cys10Ser), TOPMed rs1643691259, REVEL 0.38, MetaLR 0.32
- C10W (p.Cys10Trp), gnomAD 1-23559397-G-C, REVEL 0.52, MetaLR 0.44
- Y11C (p.Tyr11Cys), TOPMed rs1268038400, gnomAD rs1268038400, REVEL 0.49, MetaLR 0.45
- Y11Y (p.Tyr11Tyr), rs575432161, gnomAD 1-23559394-G-A, CADD 8.24
- E12K (p.Glu12Lys), ExAC rs765906626, TOPMed rs765906626, gnomAD rs765906626, REVEL 0.10, MetaLR 0.18
- E12Q (p.Glu12Gln), ExAC rs765906626, TOPMed rs765906626, gnomAD rs765906626, REVEL 0.16, MetaLR 0.26
- A13E (p.Ala13Glu), ExAC rs777214087, TOPMed rs777214087, gnomAD rs777214087, REVEL 0.32, MetaLR 0.46
- A13S (p.Ala13Ser), ExAC rs762408799, TOPMed rs762408799, gnomAD rs762408799, REVEL 0.18, MetaLR 0.26
- A13V (p.Ala13Val), rs777214087, ExAC rs777214087, TOPMed rs777214087, gnomAD rs777214087, REVEL 0.21, MetaLR 0.27, Variant assessed as somatic; moderate impact.
- A13A (p.Ala13Ala), rs374832666, gnomAD 1-23559388-C-T, CADD 4.00
- V14A (p.Val14Ala), TOPMed rs1056080527, gnomAD rs1056080527, REVEL 0.39, MetaLR 0.38, Uncertain significance, not specified
- V14G (p.Val14Gly), TOPMed rs1056080527, gnomAD rs1056080527, REVEL 0.57, MetaLR 0.38
- V14V (p.Val14Val), gnomAD 1-23559385-C-G, CADD 7.45
- V14M (p.Val14Met), gnomAD 1-23559387-C-T, REVEL 0.34, MetaLR 0.50
- C16Y (p.Cys16Tyr), gnomAD 1-23559380-C-T, REVEL 0.58, MetaLR 0.36
- C16F (p.Cys16Phe), gnomAD 1-23559380-C-A, REVEL 0.70, MetaLR 0.45
- C16S (p.Cys16Ser), gnomAD 1-23559381-A-T, REVEL 0.47, MetaLR 0.24
- L17V (p.Leu17Val), Ensembl rs1643690965
- L17R (p.Leu17Arg), gnomAD 1-23559375-ACAGG-, CADD 25.70
- L17L (p.Leu17Leu), gnomAD 1-23559376-C-T, CADD 5.44
- S18L (p.Ser18Leu), TOPMed rs1226961546, gnomAD rs1226961546, REVEL 0.56, MetaLR 0.41
- S18W (p.Ser18Trp), TOPMed rs1226961546, gnomAD rs1226961546
- S18S (p.Ser18Ser), gnomAD 1-23559373-C-G, CADD 1.11
- R20C (p.Arg20Cys), ExAC rs201697476, TOPMed rs201697476, gnomAD rs201697476, REVEL 0.45, MetaLR 0.22
- R20H (p.Arg20His), 1000Genomes rs200199499, ExAC rs200199499, TOPMed rs200199499, gnomAD rs200199499, REVEL 0.16, MetaLR 0.09
- R20R (p.Arg20Arg), rs1388012283, gnomAD 1-23559367-G-C, CADD 9.83
- R20S (p.Arg20Ser), gnomAD 1-23559369-G-T, REVEL 0.26, MetaLR 0.16
- S21G (p.Ser21Gly), ExAC rs745440560, gnomAD rs745440560, REVEL 0.46, MetaLR 0.44
- S21S (p.Ser21Ser), rs778389035, gnomAD 1-23559364-A-G, CADD 12.10
- L22P (p.Leu22Pro), 1000Genomes rs41268121, ESP rs41268121, ExAC rs41268121, TOPMed rs41268121, REVEL 0.77, MetaLR 0.57
- L22L (p.Leu22Leu), gnomAD 1-23559361-C-G, CADD 8.30
- A23V (p.Ala23Val), TOPMed rs1470870629, gnomAD rs1470870629, REVEL 0.23, MetaLR 0.38
- A23A (p.Ala23Ala), rs777519760, gnomAD 1-23559358-G-C, CADD 12.40
- A23S (p.Ala23Ser), gnomAD 1-23559360-C-A, REVEL 0.12, MetaLR 0.22
- I24M (p.Ile24Met), TOPMed rs373642618, gnomAD rs373642618
- I24T (p.Ile24Thr), Ensembl rs1643690569, REVEL 0.70, MetaLR 0.61
- I24I (p.Ile24Ile), rs373642618, gnomAD 1-23559355-G-A, CADD 11.40
- I24V (p.Ile24Val), gnomAD 1-23559357-T-C, REVEL 0.38, MetaLR 0.37
- A25P (p.Ala25Pro), 1000Genomes rs201368186, ExAC rs201368186, TOPMed rs201368186, gnomAD rs201368186, REVEL 0.38, MetaLR 0.54, Uncertain significance
- A25S (p.Ala25Ser), 1000Genomes rs201368186, ExAC rs201368186, TOPMed rs201368186, gnomAD rs201368186, REVEL 0.28, MetaLR 0.16, Uncertain significance
- A25T (p.Ala25Thr), rs201368186, 1000Genomes rs201368186, ExAC rs201368186, TOPMed rs201368186, REVEL 0.29, MetaLR 0.41, Uncertain significance, not specified
- A25A (p.Ala25Ala), rs1473911828, gnomAD 1-23559352-G-A, CADD 8.45
- R26G (p.Arg26Gly), ESP rs371594384, ExAC rs371594384, TOPMed rs371594384, gnomAD rs371594384, REVEL 0.58, MetaLR 0.55, Uncertain significance
- R26P (p.Arg26Pro), ExAC rs765414579, TOPMed rs765414579, gnomAD rs765414579, REVEL 0.51, MetaLR 0.50
- R26Q (p.Arg26Gln), ExAC rs765414579, TOPMed rs765414579, gnomAD rs765414579, REVEL 0.28, MetaLR 0.55
- R26W (p.Arg26Trp), rs371594384, ClinGen CA683686, ClinVar RCV004350574, ESP rs371594384, REVEL 0.64, MetaLR 0.61, Uncertain significance, not specified
- R26R (p.Arg26Arg), rs1465360196, gnomAD 1-23559349-C-T, CADD 8.48
- G27S (p.Gly27Ser), TOPMed rs960108335, gnomAD rs960108335, REVEL 0.34, MetaLR 0.14
- G27A (p.Gly27Ala), gnomAD 1-23559346-GC-G, CADD 26.00
- G27G (p.Gly27Gly), rs761928637, gnomAD 1-23559346-G-T, CADD 7.98
- G27D (p.Gly27Asp), gnomAD 1-23559347-C-T, REVEL 0.21, MetaLR 0.25
- G27V (p.Gly27Val), gnomAD 1-23559347-C-A, REVEL 0.19, MetaLR 0.20
- R28Q (p.Arg28Gln), 1000Genomes rs34462407, ESP rs34462407, ExAC rs34462407, TOPMed rs34462407, REVEL 0.14, MetaLR 0.10
- R28R (p.Arg28Arg), rs761142520, gnomAD 1-23559343-T-G, CADD 5.21
- R28* (p.Arg28Ter), gnomAD 1-23559345-G-A, CADD 41.00
- R28G (p.Arg28Gly), gnomAD 1-23559345-G-C, REVEL 0.12, MetaLR 0.12
- G29E (p.Gly29Glu), Ensembl rs1643690019, REVEL 0.04, MetaLR 0.15, Uncertain significance, not specified
- G29R (p.Gly29Arg), ExAC rs775703785, gnomAD rs775703785, REVEL 0.05, MetaLR 0.15
- G29G (p.Gly29Gly), gnomAD 1-23559340-C-T, CADD 7.61
- K30N (p.Lys30Asn), Ensembl rs1643689983, REVEL 0.38, MetaLR 0.51
- K30A (p.Lys30Ala), gnomAD 1-23559320-TCCTCA, CADD 32.00
- G31S (p.Gly31Ser), ExAC rs771823956, gnomAD rs771823956, REVEL 0.06, MetaLR 0.08
- G31G (p.Gly31Gly), gnomAD 1-23559334-G-A, CADD 8.09
- G31D (p.Gly31Asp), gnomAD 1-23559335-C-T, REVEL 0.08, MetaLR 0.17
- P32L (p.Pro32Leu), ExAC rs770447481, TOPMed rs770447481, gnomAD rs770447481, REVEL 0.20, MetaLR 0.44, Uncertain significance, not specified
- P32Q (p.Pro32Gln), ExAC rs770447481, TOPMed rs770447481, gnomAD rs770447481
- P32R (p.Pro32Arg), ExAC rs770447481, TOPMed rs770447481, gnomAD rs770447481, REVEL 0.28, MetaLR 0.52
- P32S (p.Pro32Ser), ExAC rs759191680, gnomAD rs759191680, REVEL 0.14, MetaLR 0.27
- p.Pro32 Ala33insArgPro, gnomAD 1-23559330-C-CCGG, CADD 12.10
- P32P (p.Pro32Pro), rs748753020, gnomAD 1-23559331-C-G, CADD 0.53
- A33E (p.Ala33Glu), TOPMed rs1235238529, gnomAD rs1235238529, REVEL 0.07, MetaLR 0.21
- A33S (p.Ala33Ser), NCI-TCGA Cosmic COSV1010, Variant assessed as somatic; moderate impact.
- A33A (p.Ala33Ala), rs777802321, gnomAD 1-23559328-T-G, CADD 0.66
- A33G (p.Ala33Gly), gnomAD 1-23559331-C-CG, CADD 29.00
- A34T (p.Ala34Thr), ExAC rs769600379, TOPMed rs769600379, gnomAD rs769600379, REVEL 0.04, MetaLR 0.15
- A34V (p.Ala34Val), Ensembl rs924856316
- A34A (p.Ala34Ala), rs748037140, gnomAD 1-23559325-A-C, CADD 0.23
- p.Ala34dup, gnomAD 1-23559328-T-TGCC, CADD 12.70
- E35D (p.Glu35Asp), TOPMed rs905827907, gnomAD rs905827907
- E35G (p.Glu35Gly), Ensembl rs2124330505
- E35E (p.Glu35Glu), rs905827907, gnomAD 1-23559322-C-T, CADD 10.30
- E35A (p.Glu35Ala), gnomAD 1-23559323-T-G, REVEL 0.63, MetaLR 0.47
- E35* (p.Glu35Ter), rs751470133, gnomAD 1-23559324-C-CA, CADD 27.00
- E36D (p.Glu36Asp), gnomAD rs1464301868, REVEL 0.28, MetaLR 0.22
- E36G (p.Glu36Gly), Ensembl rs2124330487
- E36K (p.Glu36Lys), Ensembl rs976115087
- E36E (p.Glu36Glu), gnomAD 1-23559319-C-T, CADD 11.80
- P37L (p.Pro37Leu), TOPMed rs1643689499, REVEL 0.48, MetaLR 0.26
- P37P (p.Pro37Pro), rs11542315, gnomAD 1-23559316-C-T, CADD 12.50
- P37R (p.Pro37Arg), gnomAD 1-23559317-G-C, REVEL 0.54, MetaLR 0.52
- P37Q (p.Pro37Gln), gnomAD 1-23559317-G-T, REVEL 0.46, MetaLR 0.41
- P37T (p.Pro37Thr), gnomAD 1-23559318-G-T, REVEL 0.45, MetaLR 0.27
- P37S (p.Pro37Ser), gnomAD 1-23559318-G-A, REVEL 0.53, MetaLR 0.44
- L38P (p.Leu38Pro), TOPMed rs1169132742, gnomAD rs1169132742, REVEL 0.62, MetaLR 0.48
- L38R (p.Leu38Arg), gnomAD 1-23559314-A-C, REVEL 0.48, MetaLR 0.47
- L38V (p.Leu38Val), gnomAD 1-23559315-G-C, REVEL 0.08, MetaLR 0.19
- S39G (p.Ser39Gly), Ensembl rs2124330464
- S39N (p.Ser39Asn), ExAC rs750689669, TOPMed rs750689669, gnomAD rs750689669, REVEL 0.08, MetaLR 0.21
- S39T (p.Ser39Thr), ExAC rs750689669, TOPMed rs750689669, gnomAD rs750689669, REVEL 0.11, MetaLR 0.20, Uncertain significance, not specified
- S39S (p.Ser39Ser), rs1247460860, gnomAD 1-23559310-G-A, CADD 13.60
- S39R (p.Ser39Arg), gnomAD 1-23559310-G-C, REVEL 0.21, MetaLR 0.18
- L40F (p.Leu40Phe), TOPMed rs1643689331
- L41P (p.Leu41Pro), gnomAD rs1444367785, REVEL 0.86, MetaLR 0.59
- L41L (p.Leu41Leu), rs142720912, gnomAD 1-23559304-C-G, CADD 4.58
- L41V (p.Leu41Val), gnomAD 1-23559306-G-C, REVEL 0.56, MetaLR 0.55
- D42E (p.Asp42Glu), ExAC rs753832107, TOPMed rs753832107, gnomAD rs753832107, REVEL 0.37, MetaLR 0.80
- D42D (p.Asp42Asp), rs753832107, gnomAD 1-23559301-G-A, CADD 12.30
- D43E (p.Asp43Glu), 1000Genomes rs555803060, ExAC rs555803060, TOPMed rs555803060, gnomAD rs555803060
- D43N (p.Asp43Asn), rs764719782, ClinGen CA683663, ClinVar RCV004224300, ExAC rs764719782, REVEL 0.44, MetaLR 0.85, Uncertain significance, not specified
- D43D (p.Asp43Asp), rs555803060, gnomAD 1-23559298-G-A, CADD 11.80
- D43H (p.Asp43His), gnomAD 1-23559300-C-G, REVEL 0.80, MetaLR 0.96
- M44L (p.Met44Leu), TOPMed rs1416618349, gnomAD rs1416618349, REVEL 0.89, MetaLR 0.93
- M44V (p.Met44Val), TOPMed rs1416618349, gnomAD rs1416618349, Uncertain significance, not specified
- M44T (p.Met44Thr), gnomAD 1-23559296-A-G, REVEL 0.97, MetaLR 0.96
- N45N (p.Asn45Asn), rs371161646, gnomAD 1-23559292-G-A, CADD 12.20
- H46P (p.His46Pro), ExAC rs753180704, TOPMed rs753180704, gnomAD rs753180704
- H46R (p.His46Arg), ExAC rs753180704, TOPMed rs753180704, gnomAD rs753180704, REVEL 0.41, MetaLR 0.76
- H46Y (p.His46Tyr), TOPMed rs1170761791, REVEL 0.49, MetaLR 0.83
- H46H (p.His46His), rs1340899116, gnomAD 1-23559289-G-A, CADD 12.60
- H46Q (p.His46Gln), gnomAD 1-23559289-G-C, REVEL 0.35, MetaLR 0.83
- H46N (p.His46Asn), gnomAD 1-23559291-G-T, REVEL 0.39, MetaLR 0.78
- C47S (p.Cys47Ser), ESP rs367596122, TOPMed rs367596122, gnomAD rs367596122
- C47W (p.Cys47Trp), ExAC rs767879343, gnomAD rs767879343, REVEL 0.91, MetaLR 0.96
- C47Y (p.Cys47Tyr), ESP rs367596122, TOPMed rs367596122, gnomAD rs367596122, REVEL 0.94, MetaLR 0.95
- Y48* (p.Tyr48Ter), NCI-TCGA Cosmic COSV1010, NCI-TCGA Cosmic COSV6580, Variant assessed as somatic; high impact.
- S49T (p.Ser49Thr), rs146163818, ClinGen CA683659, ClinVar RCV001374523, 1000Genomes rs146163818, REVEL 0.81, MetaLR 0.93, Uncertain significance, Hereditary breast ovarian cancer syndrome
- S49Y (p.Ser49Tyr), ESP rs374890938, ExAC rs374890938, TOPMed rs374890938, gnomAD rs374890938, REVEL 0.94, MetaLR 0.96
- S49S (p.Ser49Ser), rs1643688714, gnomAD 1-23559280-G-A, CADD 11.30
- R50C (p.Arg50Cys), ExAC rs770537277, TOPMed rs770537277, REVEL 0.73, MetaLR 0.90, Uncertain significance, not specified
- R50H (p.Arg50His), TOPMed rs1247524620, REVEL 0.73, MetaLR 0.94
- R50P (p.Arg50Pro), TOPMed rs1247524620
- R50R (p.Arg50Arg), rs570232356, gnomAD 1-23559277-G-A, CADD 10.70
- L51L (p.Leu51Leu), rs772588913, gnomAD 1-23559274-C-G, CADD 11.10
- R52Q (p.Arg52Gln), ExAC rs769841287, TOPMed rs769841287, gnomAD rs769841287, REVEL 0.61, MetaLR 0.91
- R52W (p.Arg52Trp), gnomAD 1-23559273-G-A, REVEL 0.78, MetaLR 0.97
- E53* (p.Glu53Ter), NCI-TCGA Cosmic COSV6580, Variant assessed as somatic; high impact.
- E53K (p.Glu53Lys), Ensembl rs2124330324, REVEL 0.71, MetaLR 0.93
- E53Q (p.Glu53Gln), Ensembl rs2124330324, REVEL 0.55, MetaLR 0.90
- E53E (p.Glu53Glu), gnomAD 1-23559268-T-C, CADD 13.60
- L54V (p.Leu54Val), ExAC rs748044061, gnomAD rs748044061, REVEL 0.84, MetaLR 0.96
- L54L (p.Leu54Leu), rs1429005359, gnomAD 1-23559265-C-T, CADD 13.00
- L54P (p.Leu54Pro), gnomAD 1-23559266-A-G, REVEL 0.96, MetaLR 0.98
- V55A (p.Val55Ala), gnomAD rs1388196011, REVEL 0.95, MetaLR 0.97
- V55I (p.Val55Ile), TOPMed rs1272685807, REVEL 0.80, MetaLR 0.93
- V55L (p.Val55Leu), TOPMed rs1272685807, REVEL 0.92, MetaLR 0.93
- P56L (p.Pro56Leu), Ensembl rs2124330291, NCI-TCGA Cosmic COSV6580, Variant assessed as somatic; moderate impact.
- P56S (p.Pro56Ser), NCI-TCGA Cosmic COSV6580, Ensembl rs2124330296, REVEL 0.94, MetaLR 0.99, Variant assessed as somatic; moderate impact.
- P56T (p.Pro56Thr), NCI-TCGA Cosmic COSV6580, Variant assessed as somatic; moderate impact.
- P56P (p.Pro56Pro), rs150987910, gnomAD 1-23559259-G-A, CADD 11.90
- G57R (p.Gly57Arg), ExAC rs768596654, gnomAD rs768596654, REVEL 0.55, MetaLR 0.94
- G57G (p.Gly57Gly), rs2124330272, gnomAD 1-23559256-T-C, CADD 11.10
- V58A (p.Val58Ala), Ensembl rs2124330260, REVEL 0.52, MetaLR 0.87
- V58D (p.Val58Asp), Ensembl rs2124330260
- V58G (p.Val58Gly), Ensembl rs2124330260
- V58I (p.Val58Ile), Ensembl rs2124330267
- P59L (p.Pro59Leu), 1000Genomes rs202157091, TOPMed rs202157091, gnomAD rs202157091, REVEL 0.83, MetaLR 0.98
- P59P (p.Pro59Pro), rs148870313, gnomAD 1-23559250-C-G, CADD 12.80
- R60* (p.Arg60Ter), Ensembl rs2124330235
Public ID3 analysis runs
- ID3 analysis run — ID3 (390 variants) — completed 2026-08-20