NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) variants and mutations
NEDD4L (also known as E3 ubiquitin-protein ligase NEDD4-like) is a human protein-coding gene encoding an e3 ubiquitin-protein ligase NEDD4-like protein. An E3 ubiquitin ligase that labels target proteins for trafficking, signaling, or degradation. It regulates pathways including autophagy and can control the surface abundance of ion channels, linking NEDD4L biology to neuronal excitability and disease. This analysis covers 1,077 NEDD4L variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes periventricular nodular heterotopia 7, periventricular nodular heterotopia, and HIV infection. Example NEDD4L variants include M1T, M1C, and M1I.
Variant analysis overview
- Gene: NEDD4L
- Protein: E3 ubiquitin-protein ligase NEDD4-like
- UniProt accession: Q96PU5
- Organism: Homo sapiens
- Variants analyzed: 1077
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 944 unspecified-consequence records; 84 missense variants; 29 synonymous variants; 8 frameshift variants; 3 splice-region variants; 1 splice acceptor variant; 3 stop lost; 5 stop-gained variants
- Prediction scores: 1,066 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: periventricular nodular heterotopia 7, periventricular nodular heterotopia, HIV infection, atrial fibrillation, cleft palate, hypertension, peptic ulcer disease, hypertrophic cardiomyopathy, essential hypertension, dilated cardiomyopathy, Intellectual disability, Breast hypertrophy.
Protein structure and variant hotspots
- Protein features: 6 domains; 13 post-translational modification sites.
- Structural context: 613 variants have structural context.
- PTM context: 22 variants overlap post-translational modification sites.
- Experimental data: 51 protein positions have experimental scores. Source: NEDD4L WW domain domainome 1.0.
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, PharmGKB, MaveDB, LitVar.
Notable NEDD4L variants
Examples include M1T, M1C, M1I, M1V, M1R, M1L, A2E, A2T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs2511609121, ClinGen CA402714984, ClinVar RCV003571711, ESM-1b 1.00, AlphaMissense 0.58, Uncertain significance, not provided
- M1C (p.Met1Cys), gnomAD 18-58054853-CT-C, CADD 1.42
- M1I (p.Met1Ile), gnomAD 18-58054858-G-T, CADD 5.56, SIFT 0.40
- M1V (p.Met1Val), gnomAD 18-58091442-A-G, CADD 0.30
- M1R (p.Met1Arg), rs1255391176, gnomAD 18-58091443-T-G, CADD 0.63
- M1L (p.Met1Leu), rs561855500, gnomAD 18-58091463-A-T, CADD 0.15
- A2E (p.Ala2Glu), gnomAD rs62094319, REVEL 0.13, ESM-1b 1.00
- A2T (p.Ala2Thr), gnomAD 18-58044664-G-A, REVEL 0.04, ESM-1b 0.00
- A2V (p.Ala2Val), gnomAD 18-58044665-C-T, REVEL 0.05, ESM-1b 1.00
- A2A (p.Ala2Ala), gnomAD 18-58044666-G-A, CADD 16.10
- A2D (p.Ala2Asp), gnomAD 18-58091451-GC-G, CADD 0.05
- A2S (p.Ala2Ser), gnomAD 18-58091469-G-T, CADD 0.23
- T3A (p.Thr3Ala), gnomAD 18-58044667-A-G, REVEL 0.05, ESM-1b 0.00
- T3I (p.Thr3Ile), gnomAD 18-58044668-C-T, REVEL 0.05, ESM-1b 0.45
- T3T (p.Thr3Thr), gnomAD 18-58044669-C-T, CADD 14.40
- G4V (p.Gly4Val), rs774159867, ClinGen CA8975049, ClinVar RCV002799080, ExAC rs774159867, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G4W (p.Gly4Trp), ExAC rs768863821, TOPMed rs768863821, gnomAD rs768863821, REVEL 0.14, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- G4R (p.Gly4Arg), gnomAD 18-58044670-G-A, REVEL 0.16, ESM-1b 0.00
- G4G (p.Gly4Gly), gnomAD 18-58044672-G-A, CADD 14.20
- L5F (p.Leu5Phe), rs201307997, ClinGen CA8975050, ClinVar RCV000861367, ClinVar RCV004753056, REVEL 0.03, ESM-1b 0.02, Likely benign, not provided
- L5H (p.Leu5His), Ensembl rs2144325557, ESM-1b 0.37, AlphaMissense 0.09
- L5I (p.Leu5Ile), gnomAD 18-58044673-C-A, REVEL 0.04, ESM-1b 0.00
- L5P (p.Leu5Pro), gnomAD 18-58044674-T-C, REVEL 0.11, ESM-1b 0.00
- L5L (p.Leu5Leu), rs2081489841, gnomAD 18-58044675-C-T, CADD 9.84
- G6E (p.Gly6Glu), gnomAD rs2081489999, REVEL 0.07, ESM-1b 0.00
- G6R (p.Gly6Arg), TOPMed rs1345758274, gnomAD rs1345758274, REVEL 0.04, ESM-1b 0.00
- G6G (p.Gly6Gly), rs2081490055, gnomAD 18-58044678-G-A, CADD 14.80
- E7* (p.Glu7Ter), Ensembl rs1297376280, CADD 44.00
- E7D (p.Glu7Asp), rs551206250, ClinGen CA8975051, ClinVar RCV003863938, 1000Genomes rs551206250, REVEL 0.26, ESM-1b 0.00, Likely benign, not provided
- E7G (p.Glu7Gly), Ensembl rs1598897813, ESM-1b 0.00, AlphaMissense 0.19
- E7S (p.Glu7Ser), gnomAD 18-58044675-CG-C, CADD 26.30
- E7K (p.Glu7Lys), gnomAD 18-58044679-G-A, REVEL 0.21, ESM-1b 1.00
- E7E (p.Glu7Glu), rs2081546783, gnomAD 18-58045687-G-A, CADD 21.20
- P8L (p.Pro8Leu), rs375577826, ClinGen CA402715026, ClinVar RCV001733670, ESP rs375577826, REVEL 0.04, ESM-1b 0.12, Uncertain significance, Periventricular nodular heterotopia 7
- P8Q (p.Pro8Gln), ESP rs375577826, ExAC rs375577826, gnomAD rs375577826, REVEL 0.03, ESM-1b 0.71, Uncertain significance
- P8S (p.Pro8Ser), rs2144325752, ClinGen CA402715025, ClinVar RCV001921486, Ensembl rs2144325752, REVEL 0.03, ESM-1b 0.26, Uncertain significance, not provided
- P8R (p.Pro8Arg), gnomAD 18-58044683-C-G, REVEL 0.05, ESM-1b 0.35
- P8P (p.Pro8Pro), gnomAD 18-58044684-G-C, CADD 13.50
- P8T (p.Pro8Thr), gnomAD 18-58045072-C-A, CADD 11.50
- P8H (p.Pro8His), gnomAD 18-58045073-C-A, CADD 11.60
- P8A (p.Pro8Ala), rs2081514075, gnomAD 18-58045081-C-G, CADD 18.00
- V9G (p.Val9Gly), Ensembl rs1598897848, ESM-1b 1.00, AlphaMissense 0.56
- V9I (p.Val9Ile), TOPMed rs1209753272, REVEL 0.03, ESM-1b 0.00
- V9V (p.Val9Val), rs2081490569, gnomAD 18-58044687-C-T, CADD 13.40
- Y10C (p.Tyr10Cys), rs760237657, ClinGen CA8975053, cosmic curated COSV56852, ClinVar RCV001235833, REVEL 0.11, ESM-1b 1.00, Uncertain significance, not specified; not provided
- Y10F (p.Tyr10Phe), ExAC rs760237657, TOPMed rs760237657, gnomAD rs760237657, REVEL 0.10, ESM-1b 0.00, Uncertain significance
- Y10N (p.Tyr10Asn), gnomAD rs1185203471, REVEL 0.12, ESM-1b 1.00, Uncertain significance, not provided
- Y10Y (p.Tyr10Tyr), rs1449704902, gnomAD 18-58044690-T-C, CADD 11.00
- G11R (p.Gly11Arg), gnomAD 18-58044691-G-A, REVEL 0.17, ESM-1b 1.00
- L12F (p.Leu12Phe), TOPMed rs2081490867, REVEL 0.07, ESM-1b 1.00, Uncertain significance, not provided
- L12L (p.Leu12Leu), rs1338166535, gnomAD 18-58054874-T-C, CADD 1.60
- L12P (p.Leu12Pro), gnomAD 18-58091461-T-C, CADD 2.18
- S13C (p.Ser13Cys), rs1392756435, ClinGen CA402715056, ClinVar RCV001400905, gnomAD rs1392756435, REVEL 0.09, ESM-1b 1.00, Likely benign, not provided
- S13F (p.Ser13Phe), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.31, Variant assessed as somatic; moderate impact.
- S13P (p.Ser13Pro), ExAC rs766377475, gnomAD rs766377475, REVEL 0.17, ESM-1b 0.00
- S13D (p.Ser13Asp), gnomAD 18-58044695-T-TGG, CADD 27.40
- S13A (p.Ser13Ala), gnomAD 18-58044697-T-G, REVEL 0.07, ESM-1b 0.00
- S13S (p.Ser13Ser), rs753674370, gnomAD 18-58044699-C-T, CADD 4.18
- E14K (p.Glu14Lys), rs2511609518, ClinGen CA402715060, ClinVar RCV003699801, ESM-1b 1.00, AlphaMissense 0.31, Uncertain significance, not provided
- E14E (p.Glu14Glu), rs1176129020, gnomAD 18-58044702-A-G, CADD 11.60
- D15N (p.Asp15Asn), rs12968145, NCI-TCGA Cosmic COSV9989, cosmic curated COSV99896, ExAC rs12968145, ESM-1b 0.38, AlphaMissense 0.38, Variant assessed as somatic; moderate impact.
- D15Y (p.Asp15Tyr), ExAC rs12968145, gnomAD rs12968145, REVEL 0.15, ESM-1b 1.00
- D15E (p.Asp15Glu), gnomAD 18-58044705-C-G, REVEL 0.07, ESM-1b 0.00
- D15D (p.Asp15Asp), gnomAD 18-58044705-C-T, CADD 9.02
- D15G (p.Asp15Gly), gnomAD 18-58091446-A-G, CADD 0.30
- E16K (p.Glu16Lys), NCI-TCGA TCGA novel, REVEL 0.12, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- E16E (p.Glu16Glu), rs1183439681, gnomAD 18-58044708-G-A, CADD 19.90
- E16D (p.Glu16Asp), gnomAD 18-58044708-G-T, REVEL 0.06, ESM-1b 0.00
- G17A (p.Gly17Ala), ExAC rs769255133, gnomAD rs769255133, REVEL 0.04, ESM-1b 0.93
- G17R (p.Gly17Arg), rs2146617418, ClinGen CA402715199, cosmic curated COSV10721, ClinVar RCV001922076, ESM-1b 1.00, AlphaMissense 0.35, Uncertain significance, not provided
- G17M (p.Gly17Met), rs2081512788, gnomAD 18-58045072-CCCGG, CADD 16.60
- G17E (p.Gly17Glu), rs2081513391, gnomAD 18-58045076-G-A, CADD 17.00
- G17G (p.Gly17Gly), rs1342016521, gnomAD 18-58045077-G-C, CADD 17.50
- G17V (p.Gly17Val), gnomAD 18-58091467-G-T, CADD 6.95
- G17S (p.Gly17Ser), rs2084067104, gnomAD 18-58091472-G-A, CADD 5.26
- E18G (p.Glu18Gly), gnomAD rs1273725561, REVEL 0.21, ESM-1b 0.00
- E18K (p.Glu18Lys), gnomAD rs1321972184, ESM-1b 1.00, AlphaMissense 0.30
- E18Q (p.Glu18Gln), NCI-TCGA Cosmic COSV5683, cosmic curated COSV56839, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- S19Y (p.Ser19Tyr), ESP rs370078893, ExAC rs370078893, TOPMed rs370078893, gnomAD rs370078893, ESM-1b 1.00, AlphaMissense 0.35, Uncertain significance, not provided
- S19V (p.Ser19Val), rs1200525904, gnomAD 18-58045074-CG-C, CADD 8.08
- S19G (p.Ser19Gly), rs1291965859, gnomAD 18-58045078-A-G, ESM-1b 1.00, AlphaMissense 0.14
- S19I (p.Ser19Ile), gnomAD 18-58045079-G-T, ESM-1b 1.00, AlphaMissense 0.42
- S19N (p.Ser19Asn), gnomAD 18-58045079-G-A, ESM-1b 0.59, AlphaMissense 0.25
- S19R (p.Ser19Arg), rs1256086921, gnomAD 18-58045080-T-G, ESM-1b 0.86, AlphaMissense 0.89
- S19S (p.Ser19Ser), rs1256086921, gnomAD 18-58045080-T-C, CADD 16.30
- R20C (p.Arg20Cys), rs373553230, ClinGen CA8975115, cosmic curated COSV56845, ClinVar RCV001041211, REVEL 0.32, ESM-1b 0.69, Benign/Likely benign, Inborn genetic diseases; not provided
- R20H (p.Arg20His), rs375068828, ClinGen CA8975116, ClinVar RCV001237367, ClinVar RCV004960611, REVEL 0.20, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- I21T (p.Ile21Thr), gnomAD 18-58054863-T-C, CADD 4.03, SIFT 0.51
- I21I (p.Ile21Ile), gnomAD 18-58054864-T-A, CADD 0.09
- L22V (p.Leu22Val), TOPMed rs901451076, gnomAD rs901451076, REVEL 0.43, ESM-1b 1.00
- V24I (p.Val24Ile), gnomAD rs1209086085, REVEL 0.37, ESM-1b 0.24
- V24L (p.Val24Leu), NCI-TCGA TCGA novel, REVEL 0.47, ESM-1b 0.52, Variant assessed as somatic; moderate impact.
- V24V (p.Val24Val), rs1459993126, gnomAD 18-58091492-G-A, CADD 1.80
- K25* (p.Lys25Ter), rs951921559, gnomAD 18-58054871-A-T, CADD 11.70
- K25N (p.Lys25Asn), rs1446540111, gnomAD 18-58091426-G-T, CADD 3.08
- K25R (p.Lys25Arg), gnomAD 18-58091431-A-G, CADD 2.39
- V26I (p.Val26Ile), TOPMed rs1248936515, gnomAD rs1248936515, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- V27I (p.Val27Ile), ExAC rs774070850, TOPMed rs774070850, gnomAD rs774070850, REVEL 0.05, ESM-1b 0.00
- S28F (p.Ser28Phe), rs2511820985, ClinGen CA402715270, ClinVar RCV002824950, ESM-1b 1.00, AlphaMissense 0.83, Uncertain significance, not provided
- S28I (p.Ser28Ile), gnomAD 18-58091497-G-T, CADD 1.73
- G29S (p.Gly29Ser), gnomAD 18-58091499-G-A, CADD 8.20
- G29V (p.Gly29Val), gnomAD 18-58091500-G-T, CADD 8.21
- I30T (p.Ile30Thr), gnomAD rs1196933522, REVEL 0.15, ESM-1b 1.00
- D31N (p.Asp31Asn), NCI-TCGA Cosmic COSV5684, cosmic curated COSV56849, REVEL 0.18, ESM-1b 0.03, Variant assessed as somatic; moderate impact.
- A33D (p.Ala33Asp), ExAC rs776869289, gnomAD rs776869289, REVEL 0.57, ESM-1b 1.00
- A33T (p.Ala33Thr), rs771098028, ClinGen CA8975119, NCI-TCGA Cosmic COSV5684, cosmic curated COSV56841, REVEL 0.35, ESM-1b 1.00, Conflicting interpretations, Inborn genetic diseases; not provided
- K34N (p.Lys34Asn), gnomAD rs1457084325, REVEL 0.38, ESM-1b 1.00
- K34R (p.Lys34Arg), rs2146618039, ClinGen CA402715306, ClinVar RCV003028502, Ensembl rs2146618039, REVEL 0.44, ESM-1b 1.00, Uncertain significance, not provided
- F38Y (p.Phe38Tyr), NCI-TCGA Cosmic COSV9989, cosmic curated COSV99896, REVEL 0.39, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- F38S (p.Phe38Ser), gnomAD 18-58091458-T-C, CADD 0.14
- G39E (p.Gly39Glu), cosmic curated COSV10802, gnomAD rs1321626067, REVEL 0.84, ESM-1b 1.00
- A40G (p.Ala40Gly), Ensembl rs2036785921, REVEL 0.29, ESM-1b 1.00
- S41G (p.Ser41Gly), rs2036786192, ClinGen CA402715354, ClinVar RCV001349564, TOPMed rs2036786192, REVEL 0.81, ESM-1b 1.00, Uncertain significance, not provided
- D42Y (p.Asp42Tyr), TOPMed rs1311632359, REVEL 0.87, ESM-1b 1.00
- P43L (p.Pro43Leu), rs1168022706, ClinGen CA402715573, ClinVar RCV003852370, gnomAD rs1168022706, REVEL 0.79, ESM-1b 1.00, Uncertain significance, not provided
- P43S (p.Pro43Ser), rs2513448254, ClinGen CA402715569, ClinVar RCV003020196, REVEL 0.79, ESM-1b 1.00, Uncertain significance, not provided
- Y44C (p.Tyr44Cys), gnomAD rs1412067241, REVEL 0.92, ESM-1b 1.00
- V45A (p.Val45Ala), rs2513448404, ClinGen CA402715586, ClinVar RCV003660075, REVEL 0.76, ESM-1b 1.00, Uncertain significance, not provided
- V45L (p.Val45Leu), ESP rs367741894, ExAC rs367741894, TOPMed rs367741894, gnomAD rs367741894, REVEL 0.68, ESM-1b 1.00
- K46R (p.Lys46Arg), rs2047139560, ClinGen CA402715591, ClinVar RCV001034514, Ensembl rs2047139560, ESM-1b 0.00, AlphaMissense 0.26, Benign, not provided
- L47F (p.Leu47Phe), ExAC rs746306800, gnomAD rs746306800, REVEL 0.49, ESM-1b 0.72
- V51I (p.Val51Ile), rs1600177605, ClinGen CA402715621, cosmic curated COSV56843, ClinVar RCV000801326, REVEL 0.22, ESM-1b 0.03, Uncertain significance, not provided
- A52V (p.Ala52Val), rs2047140223, ClinGen CA402715632, ClinVar RCV003856491, TOPMed rs2047140223, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- D53G (p.Asp53Gly), TOPMed rs1380359617, REVEL 0.27, ESM-1b 1.00
- D53N (p.Asp53Asn), rs1053560286, ClinGen CA301417768, ClinVar RCV003709891, Ensembl rs1053560286, REVEL 0.21, ESM-1b 1.00, Benign, not provided
- E54D (p.Glu54Asp), TOPMed rs1452110886, REVEL 0.08, ESM-1b 1.00
- E54K (p.Glu54Lys), ExAC rs749659281, TOPMed rs749659281, gnomAD rs749659281, REVEL 0.37, ESM-1b 1.00, Uncertain significance, not provided
- E54Q (p.Glu54Gln), ExAC rs749659281, TOPMed rs749659281, gnomAD rs749659281, REVEL 0.22, ESM-1b 0.80, Uncertain significance, not provided
- N55D (p.Asn55Asp), rs200025824, ClinGen CA8975246, ClinVar RCV000792979, ClinVar RCV003338795, REVEL 0.16, ESM-1b 1.00, Benign/Likely benign, Inborn genetic diseases; not provided
- N55K (p.Asn55Lys), TOPMed rs1192088763, gnomAD rs1192088763, REVEL 0.18, ESM-1b 1.00
- N55S (p.Asn55Ser), gnomAD rs1217351344, REVEL 0.12, ESM-1b 0.90
- R56T (p.Arg56Thr), gnomAD rs1277689015, REVEL 0.28, ESM-1b 1.00
- E57D (p.Glu57Asp), Ensembl rs1600177838, REVEL 0.29, ESM-1b 0.00
- L58F (p.Leu58Phe), rs2148411903, ClinGen CA402715670, ClinVar RCV002209818, Ensembl rs2148411903, ESM-1b 0.56, AlphaMissense 0.66, Likely benign, not provided
- A59S (p.Ala59Ser), Ensembl rs866161211, REVEL 0.08, ESM-1b 0.00
- V61L (p.Val61Leu), gnomAD rs1205300134, REVEL 0.19, ESM-1b 1.00
- Q62K (p.Gln62Lys), rs2084068820, gnomAD 18-58091493-C-A, CADD 0.09
- Q62* (p.Gln62Ter), gnomAD 18-58091493-C-T, CADD 0.12
- Q62R (p.Gln62Arg), rs1008316977, gnomAD 18-58091494-A-G, CADD 0.23
- Q62Q (p.Gln62Gln), rs779620567, gnomAD 18-58091495-A-G, CADD 0.16
- Q62H (p.Gln62His), rs779620567, gnomAD 18-58091495-A-C, CADD 0.14
- K64T (p.Lys64Thr), rs2148412041, ClinGen CA402715710, ClinVar RCV001950182, Ensembl rs2148412041, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, not provided
- T65K (p.Thr65Lys), rs910907201, ClinGen CA301417770, ClinVar RCV003562148, TOPMed rs910907201, REVEL 0.67, ESM-1b 1.00, Conflicting interpretations, Inborn genetic diseases; not provided
- T65P (p.Thr65Pro), TOPMed rs2047143017, REVEL 0.81, ESM-1b 1.00
- I66L (p.Ile66Leu), Ensembl rs646509, REVEL 0.25, ESM-1b 1.00
- I66N (p.Ile66Asn), ExAC rs774104851, gnomAD rs774104851, REVEL 0.63, ESM-1b 1.00
- I66V (p.Ile66Val), Ensembl rs646509, REVEL 0.22, ESM-1b 1.00
- K67E (p.Lys67Glu), gnomAD rs1242715944, REVEL 0.81, ESM-1b 1.00
- K67T (p.Lys67Thr), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.98, Variant assessed as somatic; moderate impact.
- K68N (p.Lys68Asn), Ensembl rs1216505218, REVEL 0.50, ESM-1b 1.00
- T69I (p.Thr69Ile), ExAC rs750511549, gnomAD rs750511549, REVEL 0.88, ESM-1b 1.00
- K73E (p.Lys73Glu), gnomAD rs1196820903, REVEL 0.56, ESM-1b 1.00, Uncertain significance, not provided
- E77* (p.Glu77Ter), rs1331870721, NCI-TCGA Cosmic COSV5684, NCI-TCGA Cosmic COSV9989, cosmic curated COSV99895, CADD 49.00, Variant assessed as somatic; high impact.
- E77Q (p.Glu77Gln), NCI-TCGA Cosmic COSV5684, cosmic curated COSV56841, NCI-TCGA Cosmic COSV9989, REVEL 0.49, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- V82I (p.Val82Ile), ExAC rs762094975, gnomAD rs762094975, REVEL 0.33, ESM-1b 0.22
- N83K (p.Asn83Lys), ExAC rs767767265, TOPMed rs767767265, gnomAD rs767767265, REVEL 0.11, ESM-1b 1.00, Uncertain significance, not provided
- N83S (p.Asn83Ser), rs1471566713, gnomAD rs1471566713, REVEL 0.10, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S85C (p.Ser85Cys), NCI-TCGA TCGA novel, TOPMed rs1478849700, gnomAD rs1478849700, REVEL 0.27, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S85F (p.Ser85Phe), TOPMed rs1478849700, gnomAD rs1478849700, REVEL 0.26, ESM-1b 1.00
- H87L (p.His87Leu), ExAC rs760779722, gnomAD rs760779722, REVEL 0.61, ESM-1b 1.00
- R88S (p.Arg88Ser), rs2047999945, ClinGen CA402715907, ClinVar RCV002469801, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, not provided
- F91I (p.Phe91Ile), rs1600253758, ClinGen CA402715919, ClinVar RCV000790908, Ensembl rs1600253758, REVEL 0.48, ESM-1b 1.00, Uncertain significance, Periventricular nodular heterotopia 7
- F94L (p.Phe94Leu), gnomAD rs2048000562, REVEL 0.84, ESM-1b 1.00
- T100R (p.Thr100Arg), NCI-TCGA TCGA novel, REVEL 0.69, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R101* (p.Arg101Ter), TOPMed rs1383776547, gnomAD rs1383776547, CADD 38.00
- R101P (p.Arg101Pro), NCI-TCGA Cosmic COSV5685, REVEL 0.65, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R101Q (p.Arg101Gln), cosmic curated COSV56851, gnomAD rs1248345919, REVEL 0.54, ESM-1b 1.00, Uncertain significance, not provided
- D102H (p.Asp102His), TOPMed rs2058219124, REVEL 0.77, ESM-1b 1.00
- D103N (p.Asp103Asn), rs765817235, ExAC rs765817235, gnomAD rs765817235, REVEL 0.51, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- D109E (p.Asp109Glu), rs758747799, ClinGen CA300901517, ClinVar RCV001368754, ExAC rs758747799, REVEL 0.27, ESM-1b 0.12, Uncertain significance, not provided; Inborn genetic diseases
- D109V (p.Asp109Val), cosmic curated COSV56848, Ensembl rs1253943186, REVEL 0.75, ESM-1b 1.00
- D109Y (p.Asp109Tyr), gnomAD rs1228729549, REVEL 0.65, ESM-1b 1.00
- V110L (p.Val110Leu), rs777311647, ClinGen CA8975308, ClinVar RCV001214973, ExAC rs777311647, REVEL 0.28, ESM-1b 0.00, Uncertain significance, not provided
- V110M (p.Val110Met), rs777311647, ClinGen CA8975307, ClinVar RCV001904515, ClinVar RCV002482497, REVEL 0.39, ESM-1b 1.00, Uncertain significance, not specified; Periventricular nodular heterotopia 7; not provided
- P111A (p.Pro111Ala), TOPMed rs1265428529, gnomAD rs1265428529, REVEL 0.53, ESM-1b 1.00
- L112P (p.Leu112Pro), Ensembl rs1568669229, REVEL 0.85, ESM-1b 1.00
- S113C (p.Ser113Cys), rs2058221483, ClinGen CA402548229, ClinVar RCV001323472, Ensembl rs2058221483, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, not provided
- S113I (p.Ser113Ile), rs1217133917, ClinGen CA402548240, ClinVar RCV001751873, TOPMed rs1217133917, ESM-1b 0.98, AlphaMissense 0.22, Uncertain significance, not provided
- H114R (p.His114Arg), ExAC rs756725290, gnomAD rs756725290, REVEL 0.38, ESM-1b 0.00
- L115F (p.Leu115Phe), rs2515777032, ClinGen CA402548338, ClinVar RCV003855652, NCI-TCGA Cosmic COSV5685, ESM-1b 0.00, AlphaMissense 0.69, Uncertain significance, not provided
Public NEDD4L analysis runs
- NEDD4L analysis run — NEDD4L (1,077 variants) — completed 2026-05-15