DDX41 (Q9UJV9) variants and mutations
DDX41 (also known as Q9UJV9) is a human protein-coding gene encoding a probable ATP-dependent RNA helicase protein. It participates in RNA processing, ribosome biology, and innate nucleic-acid sensing in hematopoietic cells. Germline loss-of-function variants strongly predispose to myelodysplastic syndrome and acute myeloid leukemia, often after acquisition of a second somatic DDX41 variant. This analysis covers 841 DDX41 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes DDX41-related hematologic malignancy predisposition syndrome, acute myeloid leukemia, and myelodysplastic syndrome. Example DDX41 variants include M1I, M1L, and M1T.
Variant analysis overview
- Gene: DDX41
- Protein: Q9UJV9
- UniProt accession: Q9UJV9
- Organism: Homo sapiens
- Variants analyzed: 841
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 611 unspecified-consequence records; 1 stop retained variant; 115 synonymous variants; 74 missense variants; 17 frameshift variants; 7 splice-region variants; 2 stop-gained variants; 1 in-frame deletions; 1 protein altering variant; 12 substitution
- Prediction scores: 779 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: DDX41-related hematologic malignancy predisposition syndrome, acute myeloid leukemia, myelodysplastic syndrome, myelodysplastic syndrome with excess blasts, myeloid leukemia, hereditary disease, neurodegenerative disease, adult acute myeloid leukemia, chronic myelogenous leukemia, BCR-ABL1 positive, Kostmann syndrome, Myelodysplasia, Bone marrow hypocellularity.
Protein structure and variant hotspots
- Protein features: 2 domains; 1 binding sites; 6 post-translational modification sites.
- Structural context: 468 variants have structural context.
- PTM context: 13 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 DDX41 variants
Examples include M1I, M1L, M1T, E2A, E2D, E2G, E2K, E2Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs141601766, ClinGen CA358661, ClinVar RCV000210251, ClinVar RCV000519179, MetaLR 0.05, MetaSVM -1.10, Pathogenic/Likely pathogenic, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- M1L (p.Met1Leu), rs1399057229, ClinGen CA362378207, ClinVar RCV002285999, ClinVar RCV006357411, MetaLR 0.03, MetaSVM -1.06, Pathogenic, not provided; Inborn genetic diseases
- M1T (p.Met1Thr), rs938980122, []
- E2A (p.Glu2Ala), rs1399847240, ClinGen CA362378198, ClinVar RCV001822419, ClinVar RCV005320881, CADD 22.70, PolyPhen-2 0.00, Conflicting interpretations, not provided; Inborn genetic diseases; not specified
- E2D (p.Glu2Asp), rs138435584, ClinGen CA3585442, ClinVar RCV001682625, ClinVar RCV001821952, CADD 22.90, PolyPhen-2 0.03, Conflicting interpretations, DDX41-related hematologic malignancy predisposition syndrome; not provided; Inbo
- E2G (p.Glu2Gly), gnomAD rs1399847240, CADD 32.00, PolyPhen-2 0.01, Uncertain significance
- E2K (p.Glu2Lys), TOPMed rs950718925, gnomAD rs950718925, AlphaMissense 0.16, MetaLR 0.05, Uncertain significance, not provided; Inborn genetic diseases
- E2Q (p.Glu2Gln), rs950718925, ClinVar RCV004575792, AlphaMissense 0.16, MetaLR 0.05, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome
- E3D (p.Glu3Asp), TOPMed rs994034775, gnomAD rs994034775, CADD 11.70, Likely benign, Inborn genetic diseases
- E3K (p.Glu3Lys), rs779986873, ClinGen CA3585441, ClinVar RCV001752299, ClinVar RCV005550394, CADD 23.10, PolyPhen-2 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- S4* (p.Ser4Ter), ExAC rs745639610, TOPMed rs745639610, gnomAD rs745639610, CADD 48.00, Uncertain significance
- S4A (p.Ser4Ala), ExAC rs771770596, gnomAD rs771770596, CADD 22.10, PolyPhen-2 0.01, Conflicting interpretations, Inborn genetic diseases; not provided
- S4L (p.Ser4Leu), ExAC rs745639610, TOPMed rs745639610, gnomAD rs745639610, CADD 24.50, PolyPhen-2 0.04, Uncertain significance, not provided; Inborn genetic diseases
- S4T (p.Ser4Thr), ExAC rs771770596, gnomAD rs771770596, CADD 21.40, PolyPhen-2 0.03
- E5* (p.Glu5Ter), rs779029308, ClinGen CA362378182, ClinVar RCV003466161, ExAC rs779029308, CADD 49.00, Likely pathogenic
- E5D (p.Glu5Asp), Ensembl rs1761269952, MetaLR 0.06, MetaSVM -1.05, Uncertain significance, Inborn genetic diseases
- E5K (p.Glu5Lys), cosmic curated COSV10588, ExAC rs779029308, TOPMed rs779029308, gnomAD rs779029308, CADD 24.00, PolyPhen-2 0.02, Uncertain significance, Inborn genetic diseases
- P6R (p.Pro6Arg), ExAC rs757444745, gnomAD rs757444745, CADD 24.70, PolyPhen-2 0.17, Likely benign, Inborn genetic diseases
- P6T (p.Pro6Thr), rs2532092429, ClinGen CA362378176, ClinVar RCV003852268, ClinVar RCV005545136, Uncertain significance, not provided; Inborn genetic diseases
- E7* (p.Glu7Ter), rs749405703, ClinGen CA362378171, ClinVar RCV001761403, ExAC rs749405703, CADD 47.00, Uncertain significance
- E7K (p.Glu7Lys), rs749405703, ClinGen CA3585436, ClinVar RCV002298057, ClinVar RCV005552692, CADD 23.60, PolyPhen-2 0.02, Conflicting interpretations, Inborn genetic diseases; not provided
- E7Q (p.Glu7Gln), rs749405703, ClinGen CA132896497, ClinVar RCV003560565, ClinVar RCV005323494, CADD 23.10, PolyPhen-2 0.11, Conflicting interpretations, not provided; Inborn genetic diseases
- R8L (p.Arg8Leu), rs1761268384, ClinGen CA362378162, ClinVar RCV003678462, ClinVar RCV005323520, AlphaMissense 0.11, MetaLR 0.10, Uncertain significance, Inborn genetic diseases; not provided
- R8Q (p.Arg8Gln), cosmic curated COSV10520, TOPMed rs1761268384, MetaLR 0.12, MetaSVM -0.99, Likely benign, Inborn genetic diseases
- R8W (p.Arg8Trp), rs777823752, ClinGen CA3585435, ClinVar RCV003466138, ClinVar RCV005323442, CADD 26.50, PolyPhen-2 0.97, Conflicting interpretations, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- K9E (p.Lys9Glu), TOPMed rs1261255726, gnomAD rs1261255726, CADD 32.00, PolyPhen-2 0.05
- K9Q (p.Lys9Gln), TOPMed rs1261255726, gnomAD rs1261255726, CADD 31.00, PolyPhen-2 0.01
- R10G (p.Arg10Gly), TOPMed rs1161708828, gnomAD rs1161708828, REVEL 0.14, CADD 33.00
- R10Q (p.Arg10Gln), ExAC rs749014474, gnomAD rs749014474, REVEL 0.14, CADD 34.00
- R10W (p.Arg10Trp), TOPMed rs1161708828, gnomAD rs1161708828, REVEL 0.17, CADD 34.00
- A11P (p.Ala11Pro), TOPMed rs1761260852
- A11V (p.Ala11Val), rs144762739, ClinGen CA3585399, ClinVar RCV003126989, ClinVar RCV004786874, REVEL 0.04, CADD 19.70, Conflicting interpretations, not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo
- R12C (p.Arg12Cys), ExAC rs769954237, gnomAD rs769954237, REVEL 0.28, CADD 33.00, Uncertain significance, Inborn genetic diseases
- T13I (p.Thr13Ile), rs61736559, ClinGen CA3585397, ClinVar RCV001769396, ClinVar RCV001821994, REVEL 0.04, CADD 15.30, Conflicting interpretations, not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo
- T13P (p.Thr13Pro), Ensembl rs1581811333
- E15A (p.Glu15Ala), gnomAD rs1761259828, REVEL 0.05, CADD 23.50, Uncertain significance, Inborn genetic diseases
- E15K (p.Glu15Lys), rs1182905371, ClinGen CA362377963, ClinVar RCV003327758, REVEL 0.11, CADD 23.70, Uncertain significance, not provided
- E15Q (p.Glu15Gln), rs1182905371, ClinGen CA362377962, ClinVar RCV003545343, ClinVar RCV005554966, REVEL 0.05, CADD 23.30, Uncertain significance, Inborn genetic diseases; not provided
- V16L (p.Val16Leu), ExAC rs781328203, TOPMed rs781328203, gnomAD rs781328203, REVEL 0.03, CADD 14.20, Uncertain significance, Inborn genetic diseases
- V16M (p.Val16Met), ExAC rs781328203, TOPMed rs781328203, gnomAD rs781328203, REVEL 0.03, CADD 17.10, Likely benign, Inborn genetic diseases
- P17A (p.Pro17Ala), gnomAD rs1761259570, REVEL 0.01, AlphaMissense 0.05
- P17L (p.Pro17Leu), TOPMed rs1761259465, Uncertain significance, Inborn genetic diseases
- P17R (p.Pro17Arg), rs1761259465, ClinGen CA362377946, ClinVar RCV003565887, ClinVar RCV005545046, REVEL 0.02, CADD 19.60, Conflicting interpretations, not provided; Inborn genetic diseases
- P17S (p.Pro17Ser), rs1761259570, ClinGen CA362377948, ClinVar RCV002695440, AlphaMissense 0.05, MetaLR 0.02, Uncertain significance, not provided
- A18T (p.Ala18Thr), ExAC rs747566780, TOPMed rs747566780, gnomAD rs747566780, REVEL 0.05, CADD 20.10, Conflicting interpretations, Inborn genetic diseases; not provided
- G19* (p.Gly19Ter), rs780643002, ClinGen CA362377939, ClinVar RCV003466157, ClinVar RCV005323448, CADD 34.00, Pathogenic
- G19E (p.Gly19Glu), 1000Genomes rs545124279, ExAC rs545124279, gnomAD rs545124279, REVEL 0.02, CADD 14.30, Conflicting interpretations, not provided; Inborn genetic diseases
- G19R (p.Gly19Arg), ExAC rs780643002, TOPMed rs780643002, gnomAD rs780643002, REVEL 0.02, CADD 17.00, Likely benign, Inborn genetic diseases
- G20E (p.Gly20Glu), rs192558384, ClinGen CA3585391, ClinVar RCV002999046, ClinVar RCV004978437, REVEL 0.03, CADD 21.10, Likely benign, Inborn genetic diseases; not provided
- G20R (p.Gly20Arg), gnomAD rs1374496908
- S21G (p.Ser21Gly), TOPMed rs1689892904, REVEL 0.05, CADD 22.30, Likely benign, Inborn genetic diseases
- R22H (p.Arg22His), rs1330322681, ClinGen CA362377918, ClinVar RCV002994735, ClinVar RCV003465887, REVEL 0.04, CADD 22.50, Uncertain significance, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- R22L (p.Arg22Leu), TOPMed rs1330322681, gnomAD rs1330322681, REVEL 0.02, CADD 22.00, Uncertain significance, Inborn genetic diseases
- S23C (p.Ser23Cys), ExAC rs755765308, gnomAD rs755765308, Uncertain significance, Inborn genetic diseases
- S23F (p.Ser23Phe), rs755765308, ClinGen CA3585388, ClinVar RCV003466152, ClinVar RCV004763693, REVEL 0.20, CADD 25.00, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome; not provided
- E24D (p.Glu24Asp), rs2532091739, ClinVar RCV004575787, ClinVar RCV005323642, REVEL 0.03, CADD 18.80, Conflicting interpretations, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- E24K (p.Glu24Lys), gnomAD rs1407262321, REVEL 0.07, CADD 23.10
- A25G (p.Ala25Gly), ExAC rs752211686, gnomAD rs752211686, REVEL 0.03, CADD 22.10
- A25V (p.Ala25Val), ExAC rs752211686, gnomAD rs752211686, REVEL 0.08, CADD 21.40, Likely benign, Inborn genetic diseases
- E28K (p.Glu28Lys), rs1433636328, ClinGen CA362377884, cosmic curated COSV10028, ClinVar RCV002926659, REVEL 0.12, CADD 23.50, Uncertain significance, not provided; DDX41-related hematologic malignancy predisposition syndrome
- D29E (p.Asp29Glu), ESP rs138939116, ExAC rs138939116, TOPMed rs138939116, gnomAD rs138939116, REVEL 0.07, CADD 18.70
- D29N (p.Asp29Asn), Ensembl rs975031026, MetaLR 0.03, MetaSVM -1.05
- D30A (p.Asp30Ala), rs2532091672, ClinVar RCV004575783, REVEL 0.13, CADD 25.60, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome
- D30E (p.Asp30Glu), ESP rs377090308, ExAC rs377090308, TOPMed rs377090308, gnomAD rs377090308, REVEL 0.11, CADD 21.70
- D30N (p.Asp30Asn), rs559527781, ClinGen CA362377861, ClinVar RCV003466134, ClinVar RCV005554954, REVEL 0.10, CADD 24.60, Conflicting interpretations, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- D30Y (p.Asp30Tyr), rs559527781, ClinGen CA3585383, ClinVar RCV001819622, ClinVar RCV002463044, REVEL 0.24, CADD 26.50, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome; not specified; Inb
- E31K (p.Glu31Lys), rs1064794842, ClinGen CA16618188, ClinVar RCV000482372, TOPMed rs1064794842, REVEL 0.07, CADD 24.20, Uncertain significance, Inborn genetic diseases; not provided
- D32A (p.Asp32Ala), ExAC rs772969629, gnomAD rs772969629, REVEL 0.13, CADD 23.30, Likely benign, Inborn genetic diseases
- D32H (p.Asp32His), gnomAD rs1245318068, REVEL 0.08, CADD 24.00, Uncertain significance, Inborn genetic diseases
- D32N (p.Asp32Asn), rs1245318068, ClinGen CA362377835, ClinVar RCV002616016, ClinVar RCV005542957, REVEL 0.08, CADD 22.60, Conflicting interpretations, Inborn genetic diseases; not provided
- Y33C (p.Tyr33Cys), ExAC rs762082953, TOPMed rs762082953, gnomAD rs762082953, REVEL 0.27, CADD 28.00, Uncertain significance, Inborn genetic diseases; not provided
- Y33F (p.Tyr33Phe), ExAC rs762082953, TOPMed rs762082953, gnomAD rs762082953, REVEL 0.13, CADD 22.50, Uncertain significance, Inborn genetic diseases
- Y33H (p.Tyr33His), rs150205465, ClinGen CA3585380, ClinVar RCV001822617, ClinVar RCV002542667, REVEL 0.14, CADD 25.10, Conflicting interpretations, not provided; Inborn genetic diseases; DDX41-related hematologic malignancy pred
- V34G (p.Val34Gly), Ensembl rs1453455783, MetaLR 0.11, MetaSVM -1.01
- P35A (p.Pro35Ala), rs2127438057, ClinGen CA362377797, ClinVar RCV001769164, Ensembl rs2127438057, AlphaMissense 0.32, MetaLR 0.19, Uncertain significance, not provided
- P35L (p.Pro35Leu), rs984823447, ClinGen CA132896011, ClinVar RCV003673284, ClinVar RCV004574197, REVEL 0.27, CADD 24.80, Uncertain significance, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- P35R (p.Pro35Arg), rs984823447, ClinGen CA362377792, ClinVar RCV003839923, ClinVar RCV005555056, REVEL 0.27, CADD 26.20, Uncertain significance, Inborn genetic diseases; not provided
- Y36* (p.Tyr36Ter), rs2532091583, ClinGen CA362377782, ClinVar RCV003466155, ClinVar RCV006342979, CADD 34.00, Likely pathogenic
- Y36C (p.Tyr36Cys), rs768787901, ClinGen CA3585377, ClinVar RCV002467271, ClinVar RCV004571171, REVEL 0.33, CADD 27.80, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- V37L (p.Val37Leu), cosmic curated COSV10881, Ensembl rs2127438052, Uncertain significance, Inborn genetic diseases
- P38L (p.Pro38Leu), rs11555633, ClinGen CA3585376, ClinVar RCV002636593, ClinVar RCV004978687, REVEL 0.37, CADD 29.60, Uncertain significance, not provided; Inborn genetic diseases
- P38Q (p.Pro38Gln), ESP rs11555633, ExAC rs11555633, TOPMed rs11555633, gnomAD rs11555633, REVEL 0.38, CADD 28.30, Uncertain significance
- P38R (p.Pro38Arg), rs11555633, ClinGen CA3585375, ClinVar RCV002971253, ClinVar RCV004572481, REVEL 0.38, CADD 28.60, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- P38S (p.Pro38Ser), gnomAD rs1406601195, REVEL 0.25, CADD 26.70
- R40L (p.Arg40Leu), TOPMed rs1362518112, gnomAD rs1362518112, REVEL 0.16, CADD 24.20, Uncertain significance, Inborn genetic diseases
- R40W (p.Arg40Trp), gnomAD rs1398182183, REVEL 0.12, CADD 24.40
- Q41* (p.Gln41Ter), rs746278774, ClinGen CA3585373, ClinVar RCV000579037, ClinVar RCV001764696, CADD 42.00, Pathogenic
- Q41L (p.Gln41Leu), TOPMed rs1204442192, gnomAD rs1204442192, REVEL 0.23, CADD 23.30, Likely benign, Inborn genetic diseases
- R42C (p.Arg42Cys), rs1414400375, ClinGen CA362377731, ClinVar RCV003030535, TOPMed rs1414400375, REVEL 0.32, CADD 32.00, Uncertain significance, not provided
- R42G (p.Arg42Gly), TOPMed rs1414400375, gnomAD rs1414400375, REVEL 0.28, CADD 31.00, Uncertain significance
- R42S (p.Arg42Ser), cosmic curated COSV57905, TOPMed rs1414400375, gnomAD rs1414400375, REVEL 0.29, CADD 27.70, Uncertain significance
- Q44* (p.Gln44Ter), TOPMed rs1174618522, gnomAD rs1174618522, CADD 43.00
- L47F (p.Leu47Phe), rs1316833419, ClinGen CA362377550, ClinVar RCV003857411, ClinVar RCV005555066, REVEL 0.05, CADD 23.20, Uncertain significance, not provided; Inborn genetic diseases
- Q48* (p.Gln48Ter), rs377745714, ClinGen CA3585315, ClinVar RCV001256176, ClinVar RCV001819963, CADD 39.00, Pathogenic
- K49R (p.Lys49Arg), rs2532090494, ClinGen CA362377524, ClinVar RCV003567494, ClinVar RCV005812167, REVEL 0.07, CADD 22.80, Uncertain significance, Inborn genetic diseases; not provided
- L51Q (p.Leu51Gln), ExAC rs771688240, TOPMed rs771688240, gnomAD rs771688240, REVEL 0.20, CADD 22.50
- Q52* (p.Gln52Ter), rs2532090465, ClinGen CA362377502, ClinVar RCV003941362, CADD 40.00, Likely pathogenic
- R53G (p.Arg53Gly), rs745421135, ClinGen CA3585313, ClinVar RCV001820524, ExAC rs745421135, REVEL 0.03, CADD 23.70, Uncertain significance, not specified
- R54S (p.Arg54Ser), TOPMed rs1364366603, gnomAD rs1364366603, REVEL 0.18, CADD 19.50
- R55C (p.Arg55Cys), rs1175013945, ClinGen CA362377465, ClinVar RCV003835521, ClinVar RCV005545121, REVEL 0.04, CADD 26.10, Conflicting interpretations, Inborn genetic diseases; not provided
- R55H (p.Arg55His), rs1479333618, ClinGen CA362377464, ClinVar RCV003229183, AlphaMissense 0.19, MetaLR 0.06, Uncertain significance, not provided
- R55L (p.Arg55Leu), rs1479333618, ClinGen CA362377461, ClinVar RCV003878622, ClinVar RCV005545146, REVEL 0.06, AlphaMissense 0.19, Conflicting interpretations, not provided; Inborn genetic diseases
- K56R (p.Lys56Arg), Ensembl rs1761235555, MetaLR 0.06, MetaSVM -1.08
- A58D (p.Ala58Asp), gnomAD rs1431667147
- A58G (p.Ala58Gly), gnomAD rs1431667147, REVEL 0.05, CADD 22.90
- A58V (p.Ala58Val), gnomAD rs1431667147, MetaLR 0.04, MetaSVM -1.09
- A59S (p.Ala59Ser), Ensembl rs867483729
- A59V (p.Ala59Val), Ensembl rs2127437863, MetaLR 0.04, MetaSVM -1.08
- E61D (p.Glu61Asp), gnomAD rs1261080038, REVEL 0.04, CADD 12.10
- E61K (p.Glu61Lys), Ensembl rs1761234881, REVEL 0.10, CADD 22.70, Likely benign, Inborn genetic diseases
- E62K (p.Glu62Lys), Ensembl rs368429550
- Q63H (p.Gln63His), rs749201065, ClinGen CA3585310, ClinVar RCV003086706, ClinVar RCV003092780, REVEL 0.03, CADD 19.20, Conflicting interpretations, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Q64R (p.Gln64Arg), rs2532090262, ClinGen CA362377362, ClinVar RCV003205115, REVEL 0.11, CADD 17.40, Uncertain significance, Inborn genetic diseases
- S66R (p.Ser66Arg), rs1231474960, ClinGen CA362377329, ClinVar RCV001817570, ClinVar RCV003464150, REVEL 0.06, CADD 18.10, Likely benign, Inborn genetic diseases
- G67C (p.Gly67Cys), rs970338234, ClinGen CA362377323, ClinVar RCV002298086, AlphaMissense 0.22, MetaLR 0.05, Uncertain significance, not provided
- G67D (p.Gly67Asp), TOPMed rs1761233719, MetaLR 0.06, MetaSVM -1.09
- G67R (p.Gly67Arg), rs970338234, ClinGen CA362377324, ClinVar RCV002883039, ClinVar RCV003443153, REVEL 0.08, AlphaMissense 0.22, Conflicting interpretations, not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo
- G67S (p.Gly67Ser), TOPMed rs970338234, gnomAD rs970338234, REVEL 0.04, AlphaMissense 0.22, Likely benign, Inborn genetic diseases
- S68G (p.Ser68Gly), gnomAD rs1363890206, REVEL 0.06, CADD 21.50, Uncertain significance, Inborn genetic diseases
- S68R (p.Ser68Arg), rs2532090206, ClinGen CA362377305, ClinVar RCV003466150, REVEL 0.06, CADD 21.80, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome
- E69D (p.Glu69Asp), rs1038728566, ClinGen CA132895457, ClinVar RCV003466153, ClinVar RCV005323447, REVEL 0.08, CADD 10.90, Conflicting interpretations, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- P70S (p.Pro70Ser), rs756008087, ClinGen CA3585308, ClinVar RCV003442718, ClinVar RCV004572977, REVEL 0.05, CADD 17.40, Conflicting interpretations, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- R71G (p.Arg71Gly), Ensembl rs2127437839
- R71Q (p.Arg71Gln), rs1007652200, ClinGen CA132895437, ClinVar RCV004375826, ClinVar RCV004573459, AlphaMissense 0.09, MetaLR 0.04, Conflicting interpretations, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- G72R (p.Gly72Arg), rs752494819, ExAC rs752494819, TOPMed rs752494819, gnomAD rs752494819, REVEL 0.09, CADD 20.50, Conflicting interpretations, Inborn genetic diseases; not provided
- D73E (p.Asp73Glu), rs781615975, ClinGen CA3585306, ClinVar RCV002818721, ClinVar RCV005099715, REVEL 0.26, CADD 14.60, Uncertain significance, not provided; Inborn genetic diseases
- D75N (p.Asp75Asn), rs2532090112, ClinVar RCV004575789, REVEL 0.11, CADD 22.80, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome
- D76E (p.Asp76Glu), ExAC rs755126084, gnomAD rs755126084, REVEL 0.12, CADD 15.70
- I77V (p.Ile77Val), rs1359672157, gnomAD rs1359672157, REVEL 0.04, CADD 20.80, Variant assessed as somatic; moderate impact.
- P78A (p.Pro78Ala), TOPMed rs1164510310, gnomAD rs1164510310, REVEL 0.08, CADD 20.20, Likely benign, Inborn genetic diseases
- P78L (p.Pro78Leu), cosmic curated COSV57902, ExAC rs766355942, gnomAD rs766355942, REVEL 0.13, CADD 22.70, Uncertain significance, not provided; Inborn genetic diseases
- P78Q (p.Pro78Gln), ExAC rs766355942, gnomAD rs766355942, REVEL 0.13, CADD 22.00
- L79V (p.Leu79Val), ExAC rs750924167, TOPMed rs750924167, gnomAD rs750924167, REVEL 0.03, CADD 17.10, Likely benign, Inborn genetic diseases
- P81L (p.Pro81Leu), ExAC rs765682063, MetaLR 0.04, MetaSVM -1.10, Uncertain significance, not provided
- P81S (p.Pro81Ser), gnomAD rs1178457155, REVEL 0.16, CADD 23.10, Likely benign, Inborn genetic diseases
- S83F (p.Ser83Phe), rs771776006, ClinGen CA3585297, cosmic curated COSV10028, ClinVar RCV003841133, REVEL 0.22, CADD 24.00, Uncertain significance, not provided; Inborn genetic diseases
- N84K (p.Asn84Lys), ExAC rs759093303, gnomAD rs759093303, REVEL 0.03, CADD 15.60
- V85F (p.Val85Phe), rs773991873, ClinGen CA3585295, ClinVar RCV001256174, ClinVar RCV005318697, REVEL 0.09, CADD 23.10, Uncertain significance, Inborn genetic diseases
- V85I (p.Val85Ile), ExAC rs773991873, TOPMed rs773991873, gnomAD rs773991873, Uncertain significance, Inborn genetic diseases
- D89N (p.Asp89Asn), rs2532089979, ClinGen CA362377129, ClinVar RCV003679702, ClinVar RCV005554996, Uncertain significance, not provided; Inborn genetic diseases
- Q90* (p.Gln90Ter), rs199675507, ClinGen CA3585293, ClinVar RCV002052330, ClinVar RCV002551236, CADD 43.00, Pathogenic
- H93Q (p.His93Gln), TOPMed rs1340906536, Uncertain significance, Inborn genetic diseases
- H93Y (p.His93Tyr), gnomAD rs1264141023
- E96Q (p.Glu96Gln), TOPMed rs1413731747, gnomAD rs1413731747, REVEL 0.20, CADD 23.60
- A98T (p.Ala98Thr), rs2532089923, ClinGen CA362377019, ClinVar RCV003666940, Uncertain significance, not provided
- R101C (p.Arg101Cys), rs1761223083, ClinGen CA362376938, NCI-TCGA Cosmic COSV1002, cosmic curated COSV10028, REVEL 0.17, CADD 32.00, Uncertain significance, not specified; not provided; Inborn genetic diseases
- R101H (p.Arg101His), rs1761222979, ClinGen CA362376930, ClinVar RCV003706646, REVEL 0.11, CADD 23.60, Uncertain significance, not provided
- R101L (p.Arg101Leu), NCI-TCGA TCGA novel, TOPMed rs1761222979, REVEL 0.16, CADD 23.20, Variant assessed as somatic; moderate impact.
- A105G (p.Ala105Gly), ExAC rs746011638, gnomAD rs746011638, REVEL 0.14, CADD 24.60
- E107G (p.Glu107Gly), gnomAD rs1338679836, REVEL 0.26, CADD 33.00
- K108E (p.Lys108Glu), TOPMed rs1761222381, REVEL 0.15, CADD 25.60, Uncertain significance, Inborn genetic diseases
- L110Q (p.Leu110Gln), TOPMed rs1761222021, MetaLR 0.14, MetaSVM -1.00
- E113K (p.Glu113Lys), rs2532089170, ClinGen CA362376788, ClinVar RCV003558321, Uncertain significance, not provided
- K115E (p.Lys115Glu), TOPMed rs1761221528
- V120L (p.Val120Leu), TOPMed rs1327804634
- A121V (p.Ala121Val), rs2532089083, ClinGen CA362376683, ClinVar RCV003391268, Uncertain significance, DDX41-related disorder
- E122* (p.Glu122Ter), rs200567842, ClinGen CA132895108, ClinVar RCV000822333, ClinVar RCV002249532, CADD 39.00, Pathogenic
- E122V (p.Glu122Val), ExAC rs772916947, gnomAD rs772916947, REVEL 0.35, CADD 25.30
- G123S (p.Gly123Ser), rs764853110, ClinGen CA3585251, ClinVar RCV003869822, ClinVar RCV004573373, REVEL 0.17, CADD 22.90, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- R124* (p.Arg124Ter), rs1297703150, ClinGen CA362376658, cosmic curated COSV57903, ClinVar RCV001256172, CADD 38.00, Pathogenic
- K130M (p.Lys130Met), ExAC rs771853983, TOPMed rs771853983, gnomAD rs771853983, REVEL 0.14, CADD 23.50
- K134E (p.Lys134Glu), rs2532088584, ClinVar RCV004575780, REVEL 0.20, CADD 23.10, Uncertain significance, DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- K134R (p.Lys134Arg), rs774582005, ClinGen CA3585222, ClinVar RCV002606768, ClinVar RCV003161964, REVEL 0.09, CADD 23.50, Likely benign, Inborn genetic diseases; not provided
- G135D (p.Gly135Asp), Ensembl rs1761208980, MetaLR 0.11, MetaSVM -1.00
- G135S (p.Gly135Ser), TOPMed rs1007976783, gnomAD rs1007976783, REVEL 0.34, CADD 26.20
- I136V (p.Ile136Val), gnomAD rs1249860463, REVEL 0.17, CADD 21.00, Uncertain significance, Inborn genetic diseases
- T137M (p.Thr137Met), rs1407903590, ClinGen CA362376478, cosmic curated COSV57905, ClinVar RCV003466137, REVEL 0.14, CADD 24.20, Uncertain significance, Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- T137A (p.Thr137Ala), rs773819724, []
- D139E (p.Asp139Glu), ExAC rs748703307, gnomAD rs748703307, REVEL 0.07, CADD 0.68
- D139G (p.Asp139Gly), ExAC rs770263914, TOPMed rs770263914, gnomAD rs770263914, REVEL 0.23, CADD 23.20, Conflicting interpretations, not provided; Inborn genetic diseases
- D139H (p.Asp139His), ESP rs375462407, ExAC rs375462407, gnomAD rs375462407
- D140E (p.Asp140Glu), rs1461623455, ClinGen CA362376313, ClinVar RCV003041783, ClinVar RCV005812005, AlphaMissense 0.17, MetaLR 0.03, Uncertain significance, not provided; Inborn genetic diseases
- D140G (p.Asp140Gly), rs762890562, ClinGen CA280919, ClinVar RCV000193600, ClinVar RCV000210272, Pathogenic
- P141A (p.Pro141Ala), gnomAD rs1761207822, REVEL 0.25, CADD 22.70, Uncertain significance, Inborn genetic diseases
- P141L (p.Pro141Leu), ExAC rs781486582, gnomAD rs781486582, REVEL 0.33, CADD 25.30
- P141S (p.Pro141Ser), rs1761207822, ClinGen CA362376310, ClinVar RCV003225405, gnomAD rs1761207822, REVEL 0.28, CADD 22.40, Uncertain significance, not provided; Inborn genetic diseases
- I142M (p.Ile142Met), TOPMed rs1761207365, REVEL 0.16, CADD 19.80
- I142T (p.Ile142Thr), gnomAD rs1316889386, REVEL 0.27, CADD 24.60, Uncertain significance, Inborn genetic diseases
- S145N (p.Ser145Asn), TOPMed rs1761207174, MetaLR 0.09, MetaSVM -1.05, Uncertain significance, Inborn genetic diseases
- W146* (p.Trp146Ter), rs915284509, ClinGen CA132893653, ClinVar RCV003547017, Ensembl rs915284509, Pathogenic
Public DDX41 analysis runs
- DDX41 analysis run — DDX41 (841 variants) — completed 2026-08-18