DDX3X (ATP-dependent RNA helicase DDX3X) variants and mutations
DDX3X (also known as ATP-dependent RNA helicase DDX3X) is a human protein-coding gene encoding an ATP-dependent RNA helicase protein. An ATP-dependent RNA helicase involved in RNA processing and translation. Pathogenic variants are an established cause of neurodevelopmental disorders, particularly in females. This analysis covers 920 DDX3X variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes non-syndromic X-linked intellectual disability, X-linked intellectual disability-hypotonia-movement disorder syndrome, and medulloblastoma. Example DDX3X variants include M1?, M1I, and M1V.
Variant analysis overview
- Gene: DDX3X
- Protein: ATP-dependent RNA helicase DDX3X
- UniProt accession: O00571
- Organism: Homo sapiens
- Variants analyzed: 920
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 819 unspecified-consequence records; 55 missense variants; 28 synonymous variants; 3 splice-region variants; 1 in-frame insertions; 5 frameshift variants; 2 stop lost; 1 stop-gained variants; 10 substitution
- Prediction scores: 836 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: non-syndromic X-linked intellectual disability, X-linked intellectual disability-hypotonia-movement disorder syndrome, medulloblastoma, Intellectual disability, hereditary disease, Burkitt lymphoma, melanoma, ebv-positive nodal t- and nk-cell lymphoma, neurodevelopmental disorder, neurodegenerative disease, pleural mesothelioma, B-cell chronic lymphocytic leukemia.
Protein structure and variant hotspots
- Protein features: 2 domains; 2 binding sites; 30 post-translational modification sites.
- Structural context: 480 variants have structural context.
- PTM context: 35 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, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to DDX3X
Notable DDX3X variants
Examples include M1?, M1I, M1V, S2R, S2C, H3N, H3H, A5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1555950665, cosmic curated COSV10130, ClinGen CA412761418, NCI-TCGA Cosmic COSV1013, MetaLR 0.10, MetaSVM -1.01, Pathogenic
- M1I (p.Met1Ile), rs1555950665, ClinGen CA412761420, ClinVar RCV003992865, ESM-1b 1.00, AlphaMissense 0.85, Pathogenic, DDX3X-related disorder; not provided
- M1V (p.Met1Val), rs2519481019, ClinGen CA412761404, ClinVar RCV003577634, ESM-1b 1.00, AlphaMissense 0.25, Pathogenic, not provided
- S2R (p.Ser2Arg), cosmic curated COSV67864, ESM-1b 0.13, AlphaMissense 0.93
- S2C (p.Ser2Cys), gnomAD X-41334256-A-T, REVEL 0.30, ESM-1b 0.15
- H3N (p.His3Asn), gnomAD X-41334259-C-A, REVEL 0.06, ESM-1b 0.00
- H3H (p.His3His), gnomAD X-41334261-T-C, CADD 14.50
- A5S (p.Ala5Ser), ExAC rs776297102, gnomAD rs776297102, REVEL 0.05, ESM-1b 0.00
- A5T (p.Ala5Thr), gnomAD X-41334265-G-A, REVEL 0.06, ESM-1b 0.00
- A5A (p.Ala5Ala), gnomAD X-41334267-A-C, CADD 14.20
- V6V (p.Val6Val), rs1403252758, gnomAD X-41334270-G-A, CADD 16.30
- V6L (p.Val6Leu), gnomAD X-41337705-G-T, ESM-1b 0.00, AlphaMissense 0.14
- E7K (p.Glu7Lys), NCI-TCGA TCGA novel, TOPMed rs2063721364, ESM-1b 0.00, AlphaMissense 0.44, Variant assessed as somatic; moderate impact.
- N8S (p.Asn8Ser), rs2147332802, ClinGen CA412761511, ClinVar RCV001768982, Ensembl rs2147332802, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, not provided
- N8N (p.Asn8Asn), gnomAD X-41334276-T-C, CADD 14.80
- A9V (p.Ala9Val), TOPMed rs2063721454, ESM-1b 0.00, AlphaMissense 0.12
- A9T (p.Ala9Thr), gnomAD X-41334277-G-A, REVEL 0.05, ESM-1b 0.00
- A9E (p.Ala9Glu), gnomAD X-41334278-C-A, REVEL 0.14, ESM-1b 0.00
- A9A (p.Ala9Ala), rs761774074, gnomAD X-41334279-G-A, CADD 14.60
- L10V (p.Leu10Val), Ensembl rs2147332826, ESM-1b 0.00, AlphaMissense 0.06
- G11R (p.Gly11Arg), rs2519481159, ClinGen CA412761545, ClinVar RCV002461742, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not provided
- G11G (p.Gly11Gly), gnomAD X-41334285-G-T, CADD 14.00
- L12L (p.Leu12Leu), rs1008965180, gnomAD X-41334288-G-C, CADD 13.60
- D13G (p.Asp13Gly), rs2147332843, ClinGen CA412761574, ClinVar RCV001912281, Ensembl rs2147332843, ESM-1b 1.00, AlphaMissense 0.72, Uncertain significance, not provided
- D13D (p.Asp13Asp), rs765111475, gnomAD X-41334291-C-T, CADD 14.00
- Q14* (p.Gln14Ter), rs1555950676, ClinGen CA412761583, ClinVar RCV000598857, ClinVar RCV001260599, Pathogenic
- Q14H (p.Gln14His), rs2147332861, ClinGen CA412761595, ClinVar RCV002259427, Ensembl rs2147332861, ESM-1b 0.20, AlphaMissense 0.67, Benign, Intellectual disability, X-linked 102
- Q14E (p.Gln14Glu), gnomAD X-41334292-C-G, REVEL 0.13, ESM-1b 0.29
- Q15* (p.Gln15Ter), NCI-TCGA Cosmic COSV1044, cosmic curated COSV10443, Variant assessed as somatic; high impact.
- Q15E (p.Gln15Glu), gnomAD X-41334295-C-G, REVEL 0.14, ESM-1b 1.00
- F16S (p.Phe16Ser), cosmic curated COSV67864, ESM-1b 1.00, AlphaMissense 0.93
- F16F (p.Phe16Phe), rs773800236, gnomAD X-41337410-T-C, CADD 19.30
- A17G (p.Ala17Gly), rs1158832456, ClinGen CA412762246, cosmic curated COSV67863, ClinVar RCV003014106, ESM-1b 0.87, AlphaMissense 0.48, Uncertain significance, not provided
- A17V (p.Ala17Val), cosmic curated COSV11606, ESM-1b 1.00, AlphaMissense 0.63, Uncertain significance, not provided
- G18R (p.Gly18Arg), gnomAD X-41337414-G-C, REVEL 0.37, ESM-1b 1.00
- L19L (p.Leu19Leu), gnomAD X-41337417-C-T, CADD 15.10
- D20Y (p.Asp20Tyr), rs1569233520, ClinGen CA412762287, ClinVar RCV000785091, Ensembl rs1569233520, ESM-1b 1.00, AlphaMissense 0.90, Uncertain significance, Intellectual disability, X-linked 102
- D20D (p.Asp20Asp), gnomAD X-41337422-C-T, CADD 14.80
- D20E (p.Asp20Glu), gnomAD X-41337422-C-A, REVEL 0.15, ESM-1b 0.16
- L21P (p.Leu21Pro), gnomAD X-41337424-T-C, REVEL 0.57, ESM-1b 1.00
- N22S (p.Asn22Ser), TOPMed rs1309663175, gnomAD rs1309663175, REVEL 0.08, ESM-1b 1.00
- N22N (p.Asn22Asn), rs1422039481, gnomAD X-41337428-C-T, CADD 13.70
- S23A (p.Ser23Ala), TOPMed rs2063786582, ESM-1b 0.00, AlphaMissense 0.08
- S23C (p.Ser23Cys), cosmic curated COSV67863, ESM-1b 1.00, AlphaMissense 0.11
- S23F (p.Ser23Phe), NCI-TCGA Cosmic COSV6786, cosmic curated COSV67863, TOPMed rs2063786718, REVEL 0.22, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S24* (p.Ser24Ter), rs2147340483, ClinGen CA412762413, NCI-TCGA Cosmic COSV6786, cosmic curated COSV67863, Pathogenic
- S24A (p.Ser24Ala), cosmic curated COSV10656, ESM-1b 0.00, AlphaMissense 0.06
- p.Ser24dup, gnomAD X-41337428-C-CTCT, CADD 20.50
- S24S (p.Ser24Ser), rs1432357199, gnomAD X-41337434-A-G, CADD 13.20
- D25E (p.Asp25Glu), gnomAD rs1175361408, REVEL 0.15, ESM-1b 0.00
- D25N (p.Asp25Asn), cosmic curated COSV67864, ESM-1b 0.00, AlphaMissense 0.10
- D25D (p.Asp25Asp), gnomAD X-41337437-T-C, CADD 14.70
- N26D (p.Asn26Asp), TOPMed rs2063786997, ESM-1b 0.71, AlphaMissense 0.11
- N26I (p.Asn26Ile), gnomAD X-41337439-A-T, REVEL 0.10, ESM-1b 0.00
- Q27* (p.Gln27Ter), rs1602119250, ClinGen CA412762492, ClinVar RCV000999402, Ensembl rs1602119250, Pathogenic
- Q27H (p.Gln27His), NCI-TCGA Cosmic COSV6786, cosmic curated COSV67863, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- Q27P (p.Gln27Pro), rs2147340525, ClinGen CA412762495, ClinVar RCV001773823, Ensembl rs2147340525, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, not provided
- Q27K (p.Gln27Lys), gnomAD X-41337441-C-A, REVEL 0.19, ESM-1b 0.00
- Q27R (p.Gln27Arg), gnomAD X-41337442-A-G, REVEL 0.32, ESM-1b 0.00
- S28N (p.Ser28Asn), cosmic curated COSV11606, REVEL 0.08, ESM-1b 0.00
- S28S (p.Ser28Ser), rs767164397, gnomAD X-41337446-T-C, CADD 14.50
- G29* (p.Gly29Ter), cosmic curated COSV10606
- G29E (p.Gly29Glu), gnomAD X-41337448-G-A, REVEL 0.05, ESM-1b 1.00
- G30* (p.Gly30Ter), cosmic curated COSV10130
- G30V (p.Gly30Val), rs2147340549, ClinGen CA412762545, ClinVar RCV002032309, Ensembl rs2147340549, REVEL 0.35, ESM-1b 0.00, Uncertain significance, not provided
- G30G (p.Gly30Gly), rs1409195834, gnomAD X-41337452-A-G, CADD 16.40
- S31R (p.Ser31Arg), NCI-TCGA Cosmic COSV1013, cosmic curated COSV10130, ESM-1b 1.00, AlphaMissense 0.40, Variant assessed as somatic; moderate impact.
- S31I (p.Ser31Ile), gnomAD X-41337454-G-T, REVEL 0.13, ESM-1b 1.00
- T32P (p.Thr32Pro), Ensembl rs2063787442, ESM-1b 0.02, AlphaMissense 0.07
- T32A (p.Thr32Ala), gnomAD X-41337456-A-G, REVEL 0.08, ESM-1b 0.00
- A33V (p.Ala33Val), TOPMed rs2063787616, ESM-1b 0.00, AlphaMissense 0.08
- A33D (p.Ala33Asp), gnomAD X-41337460-C-A, REVEL 0.06, ESM-1b 1.00
- A33A (p.Ala33Ala), rs1326601263, gnomAD X-41337461-C-T, CADD 12.30
- S34N (p.Ser34Asn), ExAC rs752354649, gnomAD rs752354649, REVEL 0.05, ESM-1b 0.56
- S34G (p.Ser34Gly), gnomAD X-41337462-A-G, REVEL 0.15, ESM-1b 0.00
- S34R (p.Ser34Arg), gnomAD X-41337464-C-A, REVEL 0.10, ESM-1b 1.00
- S34I (p.Ser34Ile), gnomAD X-41337697-G-T, ESM-1b 1.00, AlphaMissense 0.20
- K35R (p.Lys35Arg), gnomAD X-41339036-A-G, REVEL 0.08, ESM-1b 0.00
- G36V (p.Gly36Val), gnomAD X-41339039-G-T, REVEL 0.35, ESM-1b 1.00
- R37C (p.Arg37Cys), NCI-TCGA Cosmic COSV6786, cosmic curated COSV67864, Ensembl rs2063810957, REVEL 0.28, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R37P (p.Arg37Pro), cosmic curated COSV10593, ESM-1b 1.00, AlphaMissense 0.86
- R37R (p.Arg37Arg), rs749101617, gnomAD X-41339040-G-A, CADD 7.17
- R37S (p.Arg37Ser), rs749101617, gnomAD X-41339040-G-T, ESM-1b 1.00, AlphaMissense 0.91
- R37L (p.Arg37Leu), gnomAD X-41339042-G-T, REVEL 0.28, ESM-1b 1.00
- R37H (p.Arg37His), gnomAD X-41339042-G-A, REVEL 0.22, ESM-1b 1.00
- Y38C (p.Tyr38Cys), rs1555951993, ClinGen CA412762885, cosmic curated COSV67864, ClinVar RCV000656409, REVEL 0.63, ESM-1b 1.00, Pathogenic/Likely pathogenic, not provided; Intellectual disability, X-linked 102
- Y38F (p.Tyr38Phe), cosmic curated COSV67863, REVEL 0.27, ESM-1b 1.00
- Y38H (p.Tyr38His), cosmic curated COSV10593, REVEL 0.43, ESM-1b 1.00, Uncertain significance, Intellectual disability, X-linked 102
- Y38N (p.Tyr38Asn), gnomAD X-41339044-T-A, REVEL 0.47, ESM-1b 1.00
- Y38Y (p.Tyr38Tyr), gnomAD X-41339046-T-C, CADD 11.40
- Y38* (p.Tyr38Ter), gnomAD X-41339046-T-A, CADD 36.00
- I39F (p.Ile39Phe), gnomAD X-41339047-A-T, REVEL 0.34, ESM-1b 1.00
- I39V (p.Ile39Val), gnomAD X-41339047-A-G, REVEL 0.17, ESM-1b 0.00
- I39T (p.Ile39Thr), gnomAD X-41339048-T-C, REVEL 0.41, ESM-1b 1.00
- I39I (p.Ile39Ile), gnomAD X-41339049-T-C, CADD 11.10
- P40L (p.Pro40Leu), rs1064793858, ClinGen CA412762939, ClinVar RCV002464988, REVEL 0.51, ESM-1b 1.00, Conflicting interpretations, not provided; Intellectual disability, X-linked 102
- P40R (p.Pro40Arg), rs1064793858, ClinGen CA16621377, ClinVar RCV000478349, ClinVar RCV002274037, ESM-1b 1.00, AlphaMissense 0.99, Pathogenic, not provided; Neurodevelopmental delay
- P40S (p.Pro40Ser), rs1602122138, ClinGen CA412762929, cosmic curated COSV10130, ClinVar RCV000999403, ESM-1b 1.00, AlphaMissense 1.00, Likely pathogenic, Intellectual disability, X-linked 102; not provided
- P40T (p.Pro40Thr), gnomAD X-41339050-C-A, REVEL 0.45, ESM-1b 1.00
- P40H (p.Pro40His), gnomAD X-41339051-C-A, REVEL 0.45, ESM-1b 1.00
- P40P (p.Pro40Pro), gnomAD X-41339052-T-C, CADD 16.90
- P41H (p.Pro41His), rs1341824034, ClinGen CA412762957, ClinVar RCV001253093, gnomAD rs1341824034, REVEL 0.37, ESM-1b 1.00, Uncertain significance, Intellectual disability, X-linked 102
- P41L (p.Pro41Leu), cosmic curated COSV67864, gnomAD rs1341824034, REVEL 0.26, ESM-1b 1.00, Uncertain significance
- P41S (p.Pro41Ser), rs1064793796, ClinGen CA16621378, cosmic curated COSV10533, ClinVar RCV000483467, REVEL 0.29, ESM-1b 1.00, Pathogenic/Likely pathogenic, not provided; DDX3X-related disorder; Inborn genetic diseases
- P41T (p.Pro41Thr), gnomAD X-41339053-C-A, REVEL 0.38, ESM-1b 1.00
- P41P (p.Pro41Pro), gnomAD X-41339055-T-C, CADD 15.50
- H42N (p.His42Asn), gnomAD X-41339056-C-A, REVEL 0.31, ESM-1b 1.00
- H42Y (p.His42Tyr), gnomAD X-41339056-C-T, REVEL 0.27, ESM-1b 1.00
- H42L (p.His42Leu), gnomAD X-41339057-A-T, REVEL 0.56, ESM-1b 1.00
- H42R (p.His42Arg), gnomAD X-41339057-A-G, REVEL 0.48, ESM-1b 1.00
- H42H (p.His42His), rs200109147, gnomAD X-41339058-T-C, CADD 11.20
- L43* (p.Leu43Ter), cosmic curated COSV10656
- L43S (p.Leu43Ser), cosmic curated COSV10751, REVEL 0.27, ESM-1b 1.00
- L43L (p.Leu43Leu), gnomAD X-41339059-T-C, CADD 14.10
- L43F (p.Leu43Phe), gnomAD X-41339061-A-T, REVEL 0.18, ESM-1b 1.00
- R44G (p.Arg44Gly), gnomAD X-41339060-TA-T, CADD 29.70
- R44W (p.Arg44Trp), gnomAD X-41339062-A-T, REVEL 0.56, ESM-1b 1.00
- R44M (p.Arg44Met), gnomAD X-41339063-G-T, REVEL 0.60, ESM-1b 1.00
- R44K (p.Arg44Lys), gnomAD X-41339063-G-A, REVEL 0.23, ESM-1b 1.00
- R44S (p.Arg44Ser), gnomAD X-41339064-G-T, REVEL 0.46, ESM-1b 1.00
- R44R (p.Arg44Arg), gnomAD X-41339064-G-A, CADD 14.10
- N45Y (p.Asn45Tyr), rs2519497548, ClinGen CA412763042, ClinVar RCV003324885, ESM-1b 1.00, AlphaMissense 0.61, Uncertain significance, not provided
- N45T (p.Asn45Thr), gnomAD X-41339062-AG-A, CADD 32.00
- N45D (p.Asn45Asp), gnomAD X-41339065-A-G, REVEL 0.23, ESM-1b 1.00
- N45S (p.Asn45Ser), gnomAD X-41339066-A-G, REVEL 0.18, ESM-1b 1.00
- N45N (p.Asn45Asn), gnomAD X-41339067-C-T, CADD 11.10
- N45K (p.Asn45Lys), gnomAD X-41339067-C-A, REVEL 0.11, ESM-1b 1.00
- R46* (p.Arg46Ter), rs1569234653, ClinGen CA412763072, NCI-TCGA Cosmic COSV1013, cosmic curated COSV10130, CADD 36.00, Pathogenic
- R46R (p.Arg46Arg), rs1569234653, gnomAD X-41339068-C-A, CADD 13.20
- R46Q (p.Arg46Gln), gnomAD X-41339069-G-A, REVEL 0.15, ESM-1b 1.00
- E47K (p.Glu47Lys), gnomAD X-41339071-G-A, REVEL 0.18, ESM-1b 1.00
- E47G (p.Glu47Gly), gnomAD X-41339072-A-G, REVEL 0.32, ESM-1b 0.77
- E47E (p.Glu47Glu), gnomAD X-41339073-A-G, CADD 14.50
- A48S (p.Ala48Ser), cosmic curated COSV10944, REVEL 0.09, ESM-1b 0.00
- A48T (p.Ala48Thr), gnomAD X-41339074-G-A, REVEL 0.09, ESM-1b 0.00
- A48D (p.Ala48Asp), gnomAD X-41339075-C-A, REVEL 0.14, ESM-1b 1.00
- A48G (p.Ala48Gly), gnomAD X-41339075-C-G, REVEL 0.11, ESM-1b 0.00
- A48A (p.Ala48Ala), rs928417562, gnomAD X-41339076-T-A, CADD 13.10
- T49A (p.Thr49Ala), cosmic curated COSV10130, REVEL 0.04, ESM-1b 0.00
- T49I (p.Thr49Ile), ExAC rs774308886, gnomAD rs774308886, REVEL 0.04, ESM-1b 1.00
- T49S (p.Thr49Ser), gnomAD X-41339077-A-T, REVEL 0.03, ESM-1b 0.00
- T49N (p.Thr49Asn), gnomAD X-41339078-C-A, REVEL 0.04, ESM-1b 0.00
- T49T (p.Thr49Thr), gnomAD X-41339079-T-A, CADD 13.20
- K50* (p.Lys50Ter), rs1064796382, ClinGen CA16621379, NCI-TCGA Cosmic COSV1013, cosmic curated COSV10130, Pathogenic
- K50R (p.Lys50Arg), gnomAD X-41339081-A-G, REVEL 0.17, ESM-1b 0.00
- K50K (p.Lys50Lys), gnomAD X-41339082-A-G, CADD 23.30
- G51D (p.Gly51Asp), rs1263310293, ClinGen CA412764630, ClinVar RCV002469511, gnomAD rs1263310293, REVEL 0.12, ESM-1b 0.00, Uncertain significance, not provided
- G51V (p.Gly51Val), gnomAD X-41339079-TA-T, CADD 31.00
- F52C (p.Phe52Cys), gnomAD rs1879402349, ESM-1b 1.00, AlphaMissense 0.13
- Y53* (p.Tyr53Ter), cosmic curated COSV10972, CADD 37.00
- D54N (p.Asp54Asn), rs1187201543, TOPMed rs1187201543, gnomAD rs1187201543, REVEL 0.07, ESM-1b 0.04, Variant assessed as somatic; moderate impact.
- D56G (p.Asp56Gly), TOPMed rs1012287078, gnomAD rs1012287078, REVEL 0.21, ESM-1b 0.00
- D56N (p.Asp56Asn), gnomAD rs1198871978, REVEL 0.07, ESM-1b 0.00
- S57N (p.Ser57Asn), rs749047477, ClinGen CA10389375, ClinVar RCV002091473, ClinVar RCV003015239, REVEL 0.02, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not provided
- S57R (p.Ser57Arg), rs2519505296, ClinGen CA412764724, ClinVar RCV002834130, ESM-1b 0.00, AlphaMissense 0.73, Uncertain significance, not provided
- S58* (p.Ser58Ter), rs1602126980, ClinGen CA412764733, ClinVar RCV000990794, Ensembl rs1602126980, Pathogenic
- S58A (p.Ser58Ala), rs1555952639, ClinGen CA412764730, ClinVar RCV000497901, Ensembl rs1555952639, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided
- S58T (p.Ser58Thr), NCI-TCGA Cosmic COSV1013, cosmic curated COSV10130, ESM-1b 0.34, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- W60* (p.Trp60Ter), cosmic curated COSV10593, cosmic curated COSV10751
- W60L (p.Trp60Leu), rs2519505328, ClinGen CA412764759, ClinVar RCV002304385, ESM-1b 0.00, AlphaMissense 0.64, Uncertain significance, not provided
- W60C (p.Trp60Cys), gnomAD X-41337695-G-T, ESM-1b 0.92, AlphaMissense 0.87
- S61G (p.Ser61Gly), rs778806111, ClinGen CA10389377, ClinVar RCV001709455, ClinVar RCV002539726, REVEL 0.09, ESM-1b 0.00, Benign/Likely benign, not provided; Inborn genetic diseases
- S61N (p.Ser61Asn), TOPMed rs1369281442, gnomAD rs1369281442, REVEL 0.04, ESM-1b 0.00
- D65G (p.Asp65Gly), rs2063850443, ClinGen CA412764828, ClinVar RCV001596088, ClinVar RCV002592509, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Intellectual disability, X-linked 102; not provided
- D65N (p.Asp65Asn), cosmic curated COSV67864, ESM-1b 0.95, AlphaMissense 0.20
- K66R (p.Lys66Arg), gnomAD rs1453386913, REVEL 0.04, ESM-1b 0.00
- D67Y (p.Asp67Tyr), cosmic curated COSV67864, ESM-1b 1.00, AlphaMissense 0.52
- A68E (p.Ala68Glu), rs1250603833, ClinGen CA412764871, ClinVar RCV003719144, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, not provided
- A68V (p.Ala68Val), rs1250603833, ClinGen CA412764875, NCI-TCGA Cosmic COSV6786, cosmic curated COSV67863, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not provided
- Y69* (p.Tyr69Ter), rs2147348697, ClinGen CA412764889, ClinVar RCV001785393, Ensembl rs2147348697, Pathogenic
- Y69C (p.Tyr69Cys), cosmic curated COSV11606, ESM-1b 0.95, AlphaMissense 0.31
- S71C (p.Ser71Cys), ExAC rs772081578, TOPMed rs772081578, gnomAD rs772081578, ESM-1b 1.00, AlphaMissense 0.30
- S71G (p.Ser71Gly), ExAC rs772081578, TOPMed rs772081578, gnomAD rs772081578, REVEL 0.12, ESM-1b 0.00
- G73* (p.Gly73Ter), cosmic curated COSV10130
- S74Y (p.Ser74Tyr), Ensembl rs2147348711, REVEL 0.07, ESM-1b 1.00
- R75C (p.Arg75Cys), TOPMed rs1289923555, gnomAD rs1289923555, REVEL 0.16, ESM-1b 1.00
- R75H (p.Arg75His), rs1569236301, ClinGen CA412764961, cosmic curated COSV11606, ClinVar RCV002306351, REVEL 0.13, ESM-1b 0.27, Uncertain significance, not provided
- R75L (p.Arg75Leu), cosmic curated COSV10972, ESM-1b 1.00, AlphaMissense 0.74
- S76N (p.Ser76Asn), rs2519505476, ClinGen CA412764976, ClinVar RCV003553317, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, not provided
- S76G (p.Ser76Gly), gnomAD rs1312827755, REVEL 0.02, ESM-1b 0.00
Public DDX3X analysis runs
- DDX3X analysis run — DDX3X (920 variants) — completed 2026-10-09