WDR45 (Q9Y484) variants and mutations
WDR45 (also known as Q9Y484) is a human protein-coding gene encoding a WD repeat domain phosphoinositide-interacting protein 4 protein. It participates in early autophagosome formation and cellular recycling pathways, with neurons particularly vulnerable to its dysfunction. De novo or mosaic loss-of-function variants cause beta-propeller protein-associated neurodegeneration, with childhood developmental delay followed by progressive dystonia, parkinsonism, and brain iron accumulation. This analysis covers 632 WDR45 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes neurodegeneration with brain iron accumulation 5, Dystonia, and hereditary disease. Example WDR45 variants include M1I, M1K, and M1T.
Variant analysis overview
- Gene: WDR45
- Protein: Q9Y484
- UniProt accession: Q9Y484
- Organism: Homo sapiens
- Variants analyzed: 632
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 391 unspecified-consequence records; 1 stop lost; 1 stop retained variant; 5 in-frame deletions; 106 synonymous variants; 110 missense variants; 6 frameshift variants; 1 incomplete terminal codon variant; 6 splice-region variants; 1 stop-gained variants; 3 substitution
- Prediction scores: 450 variants have prediction scores (71% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegeneration with brain iron accumulation 5, Dystonia, hereditary disease, neurodegenerative disease, Global developmental delay, Intellectual disability, neurodegeneration with brain iron accumulation, X-linked cerebral-cerebellar-coloboma syndrome syndrome, Seizure, oculocutaneous albinism type 7, infantile spasms, lysosomal storage disease.
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 WDR45 variants
Examples include M1I, M1K, M1T, M1V, T2I, Q3*, Q3H, Q4*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2520267360, ClinGen CA412949584, ClinVar RCV003327953, Pathogenic, not provided
- M1K (p.Met1Lys), rs1569523565, ClinGen CA412949588, ClinVar RCV000760207, ClinVar RCV000999424, AlphaMissense 0.12, MetaLR 0.58, Pathogenic/Likely pathogenic, Neurodegeneration with brain iron accumulation 5; not provided
- M1T (p.Met1Thr), rs1569523565, ClinGen CA412949589, ClinVar RCV002272799, ClinVar RCV003222411, AlphaMissense 0.12, MetaLR 0.58, Pathogenic, Neurodegeneration with brain iron accumulation 5; not provided
- M1V (p.Met1Val), rs2065048490, ClinGen CA412949591, ClinVar RCV001260829, ClinVar RCV001879996, AlphaMissense 0.06, MetaLR 0.53, Pathogenic/Likely pathogenic, Neurodegeneration with brain iron accumulation 5; not provided
- T2I (p.Thr2Ile), rs2147817901, ClinGen CA412949578, ClinVar RCV002167196, Ensembl rs2147817901, REVEL 0.29, CADD 21.90, Conflicting interpretations, Neurodegeneration with brain iron accumulation 5
- Q3* (p.Gln3Ter), NCI-TCGA Cosmic COSV5987, cosmic curated COSV59875, Variant assessed as somatic; high impact.
- Q3H (p.Gln3His), ExAC rs782200007, gnomAD rs782200007
- Q4* (p.Gln4Ter), rs2065048388, ClinGen CA412949568, ClinVar RCV001218190, ClinVar RCV006272435, Pathogenic
- P5L (p.Pro5Leu), rs2520267311, ClinGen CA412949555, ClinVar RCV003019236, REVEL 0.35, CADD 20.00, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- R7* (p.Arg7Ter), rs886041382, ClinGen CA10603602, NCI-TCGA Cosmic COSV5987, cosmic curated COSV59875, Pathogenic
- R7Q (p.Arg7Gln), rs782671518, ClinGen CA10408646, NCI-TCGA Cosmic COSV5987, cosmic curated COSV59876, REVEL 0.32, CADD 22.80, Benign/Likely benign, Neurodegeneration with brain iron accumulation 5; not provided
- G8* (p.Gly8Ter), cosmic curated COSV10054
- G8R (p.Gly8Arg), rs2147817867, ClinGen CA412949544, ClinVar RCV001413386, Ensembl rs2147817867, AlphaMissense 0.79, MetaLR 0.56, Likely benign, Neurodegeneration with brain iron accumulation 5
- V9A (p.Val9Ala), ExAC rs782568191, gnomAD rs782568191, REVEL 0.39, CADD 23.50
- T10I (p.Thr10Ile), rs2147817863, ClinGen CA412949529, ClinVar RCV002279145, Ensembl rs2147817863, AlphaMissense 0.18, MetaLR 0.05, Uncertain significance, not provided
- S11I (p.Ser11Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S11R (p.Ser11Arg), gnomAD rs912755294, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R13C (p.Arg13Cys), rs782798113, ClinGen CA10408643, ClinVar RCV001501204, ClinVar RCV004037422, REVEL 0.20, CADD 25.30, Likely benign, Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5
- R13H (p.Arg13His), rs201177026, ClinGen CA10408642, ClinVar RCV001200324, ClinVar RCV001516392, REVEL 0.05, AlphaMissense 0.35, Benign/Likely benign, not provided; not specified; Neurodegeneration with brain iron accumulation 5
- R13L (p.Arg13Leu), rs201177026, ClinGen CA412949513, ClinVar RCV003238066, 1000Genomes rs201177026, AlphaMissense 0.35, MetaLR 0.17, Uncertain significance, not provided
- R13P (p.Arg13Pro), rs201177026, ClinGen CA412949514, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, AlphaMissense 0.35, MetaLR 0.17, Conflicting interpretations, Neurodegeneration with brain iron accumulation 5; not provided
- F14S (p.Phe14Ser), rs1064794744, ClinGen CA16621426, ClinVar RCV000485248, Ensembl rs1064794744, AlphaMissense 1.00, MetaLR 0.44, Likely pathogenic, not provided
- Q16* (p.Gln16Ter), rs1557084549, ClinGen CA10588790, ClinVar RCV000256125, ClinVar RCV000624728, Pathogenic
- D17Y (p.Asp17Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q18* (p.Gln18Ter), rs1569523562, ClinGen CA412949480, cosmic curated COSV10882, ClinVar RCV000760729, Pathogenic
- Q18R (p.Gln18Arg), rs2147817831, ClinGen CA412949478, ClinVar RCV002073732, Ensembl rs2147817831, AlphaMissense 0.34, MetaLR 0.19, Likely benign, Neurodegeneration with brain iron accumulation 5
- A24T (p.Ala24Thr), rs187104097, ClinGen CA10408626, cosmic curated COSV59876, ClinVar RCV001345172, REVEL 0.34, CADD 25.40, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- M25I (p.Met25Ile), gnomAD rs1557084518
- E26Q (p.Glu26Gln), cosmic curated COSV59875
- R30C (p.Arg30Cys), rs782380620, ClinGen CA10408624, cosmic curated COSV10054, ClinVar RCV001327502, REVEL 0.69, CADD 28.60, Uncertain significance, not provided; Neurodegeneration with brain iron accumulation 5
- R30H (p.Arg30His), rs2065047023, ClinGen CA412949378, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, REVEL 0.52, CADD 23.80, Uncertain significance, Neurodegeneration with brain iron accumulation 5; not provided
- R30L (p.Arg30Leu), cosmic curated COSV59876
- I31V (p.Ile31Val), rs781803477, ClinGen CA10408623, ClinVar RCV000817703, ClinVar RCV001772125, REVEL 0.09, CADD 15.50, Uncertain significance, Neurodegeneration with brain iron accumulation 5; not provided
- N33S (p.Asn33Ser), TOPMed rs1443756909, REVEL 0.24, CADD 23.10, Uncertain significance, not specified; Neurodegeneration with brain iron accumulation 5
- V34M (p.Val34Met), rs151051355, ClinGen CA10408621, ClinVar RCV001523087, ClinVar RCV001572743, REVEL 0.20, CADD 24.70, Benign/Likely benign, not provided; Neurodegeneration with brain iron accumulation 5
- E35A (p.Glu35Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P36H (p.Pro36His), rs2520266803, ClinGen CA412949338, ClinVar RCV003147748, Likely pathogenic, Optic atrophy 2
- L37F (p.Leu37Phe), NCI-TCGA Cosmic COSV5987, cosmic curated COSV59875, Variant assessed as somatic; moderate impact.
- E39K (p.Glu39Lys), rs2065046905, ClinGen CA412949318, ClinVar RCV002357578, gnomAD rs2065046905, REVEL 0.31, CADD 23.90, Uncertain significance, Inborn genetic diseases
- K40N (p.Lys40Asn), cosmic curated COSV59876, TOPMed rs1219495566
- G41V (p.Gly41Val), cosmic curated COSV59876
- H42N (p.His42Asn), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, Variant assessed as somatic; moderate impact.
- L43V (p.Leu43Val), cosmic curated COSV10882, Ensembl rs2065046830
- H45N (p.His45Asn), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, TOPMed rs2065046194, gnomAD rs2065046194, REVEL 0.05, CADD 21.00, Variant assessed as somatic; moderate impact.
- E46* (p.Glu46Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E46D (p.Glu46Asp), Ensembl rs2147817528
- E46K (p.Glu46Lys), rs1326742832, ClinGen CA412949255, ClinVar RCV000650357, TOPMed rs1326742832, REVEL 0.18, CADD 21.30, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- Q47* (p.Gln47Ter), rs2065046104, ClinGen CA412949248, ClinVar RCV001265671, Ensembl rs2065046104, Pathogenic
- V48L (p.Val48Leu), ExAC rs782518681, gnomAD rs782518681, REVEL 0.14, CADD 21.50, Likely benign, Inborn genetic diseases
- V48M (p.Val48Met), ExAC rs782518681, gnomAD rs782518681, REVEL 0.14, CADD 23.40
- G49C (p.Gly49Cys), cosmic curated COSV59875
- G49S (p.Gly49Ser), cosmic curated COSV10523
- S50G (p.Ser50Gly), gnomAD rs1557084483
- S50R (p.Ser50Arg), cosmic curated COSV59876
- M51I (p.Met51Ile), rs1334699777, ClinGen CA412949215, ClinVar RCV003735090, TOPMed rs1334699777, AlphaMissense 0.20, MetaLR 0.07, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- M51V (p.Met51Val), rs781821289, ClinGen CA10408602, ClinVar RCV002050059, ExAC rs781821289, REVEL 0.17, CADD 14.00, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- G52A (p.Gly52Ala), rs201716815, ClinGen CA10408601, ClinVar RCV001402617, 1000Genomes rs201716815, REVEL 0.19, CADD 15.90, Likely benign, Neurodegeneration with brain iron accumulation 5
- G52D (p.Gly52Asp), rs201716815, ClinGen CA10408600, ClinVar RCV000521533, ClinVar RCV001359363, REVEL 0.48, CADD 19.40, Conflicting interpretations, Neurodegeneration with brain iron accumulation 5; not provided
- V54del, rs864309661, Conflicting interpretations
- E55D (p.Glu55Asp), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, REVEL 0.38, CADD 22.50, Variant assessed as somatic; moderate impact.
- M56T (p.Met56Thr), rs2520266319, ClinGen CA412949184, ClinVar RCV003027928, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- L57M (p.Leu57Met), cosmic curated COSV10882
- L57P (p.Leu57Pro), rs1602540331, ClinGen CA412949176, ClinVar RCV000990820, Ensembl rs1602540331, AlphaMissense 1.00, MetaLR 0.75, Likely pathogenic, Neurodegeneration with brain iron accumulation 5
- R59C (p.Arg59Cys), rs887699606, NCI-TCGA Cosmic COSV5987, cosmic curated COSV59876, TOPMed rs887699606, REVEL 0.39, CADD 24.40, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- R59H (p.Arg59His), rs1557084469, ClinGen CA412949163, cosmic curated COSV59875, ClinVar RCV002902385, REVEL 0.48, AlphaMissense 1.00, Uncertain significance, Inborn genetic diseases
- R59P (p.Arg59Pro), rs1557084469, ClinGen CA412949162, ClinVar RCV000539730, Ensembl rs1557084469, AlphaMissense 1.00, MetaLR 0.71, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- S60T (p.Ser60Thr), TOPMed rs2065045788
- N61K (p.Asn61Lys), rs2065045729, ClinGen CA412949149, ClinVar RCV001052749, ClinVar RCV001091505, REVEL 0.69, CADD 23.90, Likely pathogenic, Inborn genetic diseases; not provided; Neurodegeneration with brain iron accumul
- N61N (p.Asn61Asn), rs2065040642, gnomAD X-49076785-G-A, CADD 19.60
- L62P (p.Leu62Pro), rs1602540295, ClinGen CA412949143, ClinVar RCV001004757, Likely pathogenic, Neurodegeneration with brain iron accumulation 5
- L62V (p.Leu62Val), rs2065045713, ClinGen CA412949146, ClinVar RCV001203777, Ensembl rs2065045713, AlphaMissense 0.54, MetaLR 0.25, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- A64V (p.Ala64Val), cosmic curated COSV59877
- L65S (p.Leu65Ser), rs2147817457, ClinGen CA412949127, ClinVar RCV001948780, ClinVar RCV004793632, AlphaMissense 0.99, MetaLR 0.63, Uncertain significance, not provided; Neurodegeneration with brain iron accumulation 5
- G67D (p.Gly67Asp), rs2065045650, ClinGen CA412949114, ClinVar RCV001042261, NCI-TCGA TCGA novel, REVEL 0.67, CADD 25.30, Likely pathogenic, Neurodegeneration with brain iron accumulation 5
- G68D (p.Gly68Asp), gnomAD rs1557084461
- G68S (p.Gly68Ser), cosmic curated COSV10882, Ensembl rs2065045604, REVEL 0.47, CADD 21.80
- G69A (p.Gly69Ala), rs373549198, ClinGen CA10408599, ClinVar RCV001987652, ESP rs373549198, REVEL 0.49, CADD 24.60, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- S70G (p.Ser70Gly), rs2147817424, ClinGen CA412949099, ClinVar RCV001772940, Ensembl rs2147817424, REVEL 0.02, CADD 17.40, Uncertain significance, not provided
- S70I (p.Ser70Ile), Ensembl rs2065045525, REVEL 0.06, CADD 20.10
- P72* (p.Pro72Ter), rs1569523537, ClinGen CA891844553, ClinVar RCV000687313, Ensembl rs1569523537, Pathogenic
- P72H (p.Pro72His), Ensembl rs11545581, REVEL 0.53, CADD 25.60, Uncertain significance
- P72L (p.Pro72Leu), rs11545581, ClinGen CA412949081, ClinVar RCV001985759, Ensembl rs11545581, REVEL 0.58, CADD 25.90, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- P72T (p.Pro72Thr), ExAC rs782819490, TOPMed rs782819490, gnomAD rs782819490, REVEL 0.54, CADD 24.90
- P72P (p.Pro72Pro), gnomAD X-49076797-G-A, CADD 16.70
- P72R (p.Pro72Arg), rs782794242, gnomAD X-49076798-G-C, CADD 19.30
- K73* (p.Lys73Ter), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, Variant assessed as somatic; high impact.
- K73R (p.Lys73Arg), gnomAD rs1222067322, REVEL 0.09, CADD 22.50
- E76* (p.Glu76Ter), rs2147817379, ClinGen CA412949042, ClinVar RCV001387145, Ensembl rs2147817379, CADD 36.00, Pathogenic
- S78A (p.Ser78Ala), rs1557084450, ClinGen CA412949014, ClinVar RCV002148947, gnomAD rs1557084450, AlphaMissense 0.22, MetaLR 0.32, Likely benign, Neurodegeneration with brain iron accumulation 5
- S78P (p.Ser78Pro), gnomAD rs1557084450, Likely benign
- S78* (p.Ser78Ter), gnomAD X-49076810-G-T, CADD 16.90
- V79L (p.Val79Leu), rs2520266090, ClinGen CA412949002, ClinVar RCV003127353, Pathogenic, Developmental disorder
- V79V (p.Val79Val), gnomAD X-49076749-C-G, CADD 11.80
- L80L (p.Leu80Leu), gnomAD X-49076746-C-A, CADD 12.10
- L80R (p.Leu80Arg), gnomAD X-49076783-A-C, CADD 17.80
- L80F (p.Leu80Phe), rs2065040620, gnomAD X-49076784-G-A, CADD 14.70
- L80I (p.Leu80Ile), gnomAD X-49076784-G-T, CADD 14.80
- L80P (p.Leu80Pro), gnomAD X-49076789-A-G, CADD 15.60
- L80M (p.Leu80Met), gnomAD X-49076802-G-T, CADD 16.30
- I81I (p.Ile81Ile), rs2065040356, gnomAD X-49076743-G-T, CADD 11.70
- W82* (p.Trp82Ter), rs1602539456, ClinGen CA412948585, ClinVar RCV000844934, Ensembl rs1602539456, CADD 36.00, Neurodegeneration with brain iron accumulation 5
- D83Y (p.Asp83Tyr), rs2065040310, ClinGen CA412948578, ClinVar RCV001037609, Ensembl rs2065040310, AlphaMissense 0.99, MetaLR 0.54, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- D83E (p.Asp83Glu), gnomAD X-49076737-G-T, REVEL 0.56, CADD 22.50
- D83D (p.Asp83Asp), rs782706648, gnomAD X-49076737-G-A, CADD 7.44
- D83G (p.Asp83Gly), rs2065040827, gnomAD X-49076819-T-C, CADD 6.61
- D84N (p.Asp84Asn), rs142809324, ClinGen CA10408577, ClinVar RCV001511746, ClinVar RCV001577957, REVEL 0.18, CADD 23.40, Benign/Likely benign, not provided; Inborn genetic diseases; Neurodegeneration with brain iron accumul
- D84D (p.Asp84Asp), gnomAD X-49076734-A-G, CADD 12.30
- D84G (p.Asp84Gly), gnomAD X-49076735-T-C, REVEL 0.42, CADD 28.00
- D84Y (p.Asp84Tyr), gnomAD X-49076736-C-A, REVEL 0.47, CADD 28.20
- A85G (p.Ala85Gly), cosmic curated COSV10738
- A85S (p.Ala85Ser), TOPMed rs1171817876, gnomAD rs1171817876, REVEL 0.07, CADD 22.70
- A85V (p.Ala85Val), rs41310595, ClinGen CA10408576, ClinVar RCV000650355, ClinVar RCV002507118, REVEL 0.28, CADD 22.30, Uncertain significance, Neurodegeneration with brain iron accumulation 5; Oculocutaneous albinism type 7
- A85A (p.Ala85Ala), rs1557084332, gnomAD X-49076731-G-A, CADD 13.00
- R86Q (p.Arg86Gln), rs147437546, ClinGen CA10408574, ClinVar RCV000693149, ClinVar RCV000999422, REVEL 0.15, CADD 22.20, Benign/Likely benign, Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5; not s
- R86W (p.Arg86Trp), rs139837168, ClinGen CA10408575, ClinVar RCV002953140, ClinVar RCV005774502, REVEL 0.32, CADD 28.20, Conflicting interpretations, Neurodegeneration with brain iron accumulation 5; Inborn genetic diseases
- R86R (p.Arg86Arg), gnomAD X-49076728-C-A, CADD 11.00
- R86L (p.Arg86Leu), gnomAD X-49076729-C-A, REVEL 0.23, CADD 21.50
- E87D (p.Glu87Asp), TOPMed rs1602539413, Likely benign
- G88D (p.Gly88Asp), gnomAD rs1557084328, REVEL 0.06, CADD 22.90
- G88V (p.Gly88Val), gnomAD X-49076723-C-A, REVEL 0.05, CADD 21.00
- G88S (p.Gly88Ser), gnomAD X-49076724-C-T, REVEL 0.04, CADD 20.60
- G88G (p.Gly88Gly), gnomAD X-49076779-G-A, CADD 19.90
- G88E (p.Gly88Glu), rs1557084344, gnomAD X-49076804-C-T, CADD 17.70
- K89E (p.Lys89Glu), TOPMed rs1460544405, gnomAD rs1460544405, REVEL 0.05, CADD 22.30
- K89N (p.Lys89Asn), rs1557084325, ClinGen CA412948487, ClinVar RCV000554436, Ensembl rs1557084325, AlphaMissense 0.36, MetaLR 0.08, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- D90E (p.Asp90Glu), gnomAD X-49076716-G-C, REVEL 0.05, CADD 20.90
- D90H (p.Asp90His), gnomAD X-49076718-C-G, REVEL 0.16, CADD 23.80
- D90D (p.Asp90Asp), gnomAD X-49076773-G-A, CADD 14.50
- D90G (p.Asp90Gly), gnomAD X-49076774-T-C, CADD 17.70
- D90T (p.Asp90Thr), gnomAD X-49076775-CG-C, CADD 15.60
- D90N (p.Asp90Asn), rs782245609, gnomAD X-49076775-C-T, CADD 1.29
- D90Y (p.Asp90Tyr), gnomAD X-49076775-C-A, CADD 1.73
- S91F (p.Ser91Phe), cosmic curated COSV10810
- S91Y (p.Ser91Tyr), cosmic curated COSV59876
- E93D (p.Glu93Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E93K (p.Glu93Lys), cosmic curated COSV10464
- K94R (p.Lys94Arg), gnomAD rs2065040047, REVEL 0.17, CADD 22.90
- K94K (p.Lys94Lys), rs1307429992, gnomAD X-49076704-C-T, CADD 12.00
- L95P (p.Leu95Pro), gnomAD rs1557084319
- L95R (p.Leu95Arg), gnomAD rs1557084319
- L95V (p.Leu95Val), rs2065040026, ClinGen CA412948405, ClinVar RCV003735182, Ensembl rs2065040026, AlphaMissense 0.24, MetaLR 0.08, Conflicting interpretations, Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5
- L95L (p.Leu95Leu), rs2147816569, gnomAD X-49076701-C-T, CADD 12.00
- V96L (p.Val96Leu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, Variant assessed as somatic; moderate impact.
- p.Val96 Phe101del, rs1557084312, gnomAD X-49076683-GAAGGT, CADD 19.40
- V96V (p.Val96Val), gnomAD X-49076698-C-T, CADD 12.30
- L97R (p.Leu97Arg), rs2147816567, ClinGen CA412948365, ClinVar RCV002030238, Ensembl rs2147816567, AlphaMissense 0.91, MetaLR 0.53, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- E98* (p.Glu98Ter), rs781998959, ClinGen CA412948355, ClinVar RCV001260892, NCI-TCGA TCGA novel, AlphaMissense 0.86, MetaLR 0.35, Pathogenic
- E98Q (p.Glu98Gln), ExAC rs781998959, gnomAD rs781998959, REVEL 0.24, AlphaMissense 0.86, Pathogenic
- T100A (p.Thr100Ala), NCI-TCGA TCGA novel, REVEL 0.27, CADD 22.10, Variant assessed as somatic; moderate impact.
- T100I (p.Thr100Ile), gnomAD rs1557084316, REVEL 0.27, CADD 22.50
- T100T (p.Thr100Thr), gnomAD X-49076686-G-A, CADD 12.30
- T100P (p.Thr100Pro), gnomAD X-49076792-GT-G, CADD 13.00
- T100S (p.Thr100Ser), gnomAD X-49076792-G-C, CADD 13.90
- F101L (p.Phe101Leu), rs1557084314, ClinGen CA412946827, ClinVar RCV000650356, Ensembl rs1557084314, AlphaMissense 0.99, MetaLR 0.32, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- T102S (p.Thr102Ser), cosmic curated COSV59877
- K103* (p.Lys103Ter), rs1557084310, ClinGen CA412946786, ClinVar RCV000579140, Ensembl rs1557084310, Pathogenic
- K103E (p.Lys103Glu), gnomAD X-49076679-T-C, REVEL 0.24, CADD 22.80
- P104L (p.Pro104Leu), gnomAD X-49076675-G-A, REVEL 0.23, CADD 22.80
- P104H (p.Pro104His), gnomAD X-49076765-G-T, CADD 22.00
- P104S (p.Pro104Ser), gnomAD X-49076766-G-A, CADD 18.90
- P104T (p.Pro104Thr), gnomAD X-49076769-G-T, CADD 13.20
- V105A (p.Val105Ala), Ensembl rs2065039866, REVEL 0.42, CADD 23.50
- V105L (p.Val105Leu), Ensembl rs2147816550
- V105M (p.Val105Met), rs2147816550, ClinGen CA412946749, ClinVar RCV003152141, AlphaMissense 0.92, MetaLR 0.35, Uncertain significance, not provided
- L106F (p.Leu106Phe), ExAC rs782725867, gnomAD rs782725867, REVEL 0.44, CADD 23.20
- L106P (p.Leu106Pro), rs1557084306, ClinGen CA412946722, ClinVar RCV000650358, Ensembl rs1557084306, AlphaMissense 0.99, MetaLR 0.48, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- S107C (p.Ser107Cys), Ensembl rs2065039809
- S107S (p.Ser107Ser), rs142923330, gnomAD X-49076665-A-G, CADD 12.80
- V108M (p.Val108Met), rs2520264105, ClinGen CA412946694, ClinVar RCV003225545, ClinVar RCV005102418, Uncertain significance, not provided; Neurodegeneration with brain iron accumulation 5
- R109C (p.Arg109Cys), rs369310756, ClinGen CA10408570, cosmic curated COSV59877, ClinVar RCV001468848, REVEL 0.76, CADD 25.50, Conflicting interpretations, Neurodegeneration with brain iron accumulation 5; not provided
- R109H (p.Arg109His), rs782329150, ClinGen CA10408569, cosmic curated COSV10963, ClinVar RCV001236016, REVEL 0.55, CADD 23.90, Conflicting interpretations, not provided; Inborn genetic diseases; Neurodegeneration with brain iron accumul
- R109Q (p.Arg109Gln), rs782329150, Likely benign
- M110T (p.Met110Thr), gnomAD rs372437815, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- M110V (p.Met110Val), rs782290088, ClinGen CA10408568, ClinVar RCV002112589, ExAC rs782290088, REVEL 0.25, CADD 22.40, Likely benign, Neurodegeneration with brain iron accumulation 5
- R111C (p.Arg111Cys), rs781985024, ClinGen CA10408567, NCI-TCGA Cosmic COSV5987, cosmic curated COSV59875, REVEL 0.68, CADD 24.80, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- R111H (p.Arg111His), rs782395953, ClinGen CA10408566, NCI-TCGA Cosmic COSV5987, cosmic curated COSV59875, REVEL 0.59, CADD 24.10, Uncertain significance, not provided; Neurodegeneration with brain iron accumulation 5
- R111S (p.Arg111Ser), ExAC rs781985024, TOPMed rs781985024, gnomAD rs781985024, Uncertain significance
- R111L (p.Arg111Leu), gnomAD X-49076654-C-A, REVEL 0.72, CADD 24.20
- H112Q (p.His112Gln), rs1557084298, ClinGen CA412946617, ClinVar RCV003832063, gnomAD rs1557084298, REVEL 0.20, CADD 22.90, Uncertain significance, Neurodegeneration with brain iron accumulation 5
- H112R (p.His112Arg), rs2520264082, ClinGen CA412946621, ClinVar RCV003735220, Uncertain significance, Neurodegeneration with brain iron accumulation 5
Public WDR45 analysis runs
- WDR45 analysis run — WDR45 (632 variants) — completed 2026-08-20