ADD1 (Alpha-adducin) variants and mutations
ADD1 (also known as Alpha-adducin) is a human protein-coding gene encoding an alpha-adducin protein. Its annotated function is membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin. It is annotated at the cytoplasm, cytoskeleton. This analysis covers 596 ADD1 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes neurodegenerative disease, Ventriculomegaly, and Intellectual disability. Example ADD1 variants include M1V, N2I, and N2S.
Variant analysis overview
- Gene: ADD1
- Protein: Alpha-adducin
- UniProt accession: P35611
- Organism: Homo sapiens
- Variants analyzed: 596
- Variant scope: all variants
- Completed: 2026-10-29
Variant and mutation evidence
- Variant composition: 308 unspecified-consequence records; 224 missense variants; 82 synonymous variants; 4 frameshift variants; 2 in-frame deletions; 2 stop-gained variants; 4 splice-region variants; 1 protein altering variant
- Prediction scores: 578 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, Ventriculomegaly, Intellectual disability, Global developmental delay, Abnormal corpus callosum morphology, Seizure, neurodevelopmental disorder, smoking initiation, Tracheoesophageal fistula, esophageal atresia/tracheoesophageal fistula, Abdominal pain, placental abruption.
Protein structure and variant hotspots
- Protein features: 30 post-translational modification sites.
- PTM context: 14 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable ADD1 variants
Examples include M1V, N2I, N2S, N2K, G3D, S5P, S5F, S5Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs1731205978, ClinGen CA356051432, ClinVar RCV001172284, REVEL 0.53, ESM-1b 1.00, Likely pathogenic, Esophageal atresia/tracheoesophageal fistula
- N2I (p.Asn2Ile), gnomAD 4-2875920-A-T, REVEL 0.29, ESM-1b 1.00
- N2S (p.Asn2Ser), gnomAD 4-2875920-A-G, REVEL 0.19, ESM-1b 0.10
- N2K (p.Asn2Lys), rs1731206923, gnomAD 4-2875921-T-A, REVEL 0.11, ESM-1b 1.00
- G3D (p.Gly3Asp), rs113693299, gnomAD 4-2875923-G-A, REVEL 0.20, ESM-1b 1.00
- S5P (p.Ser5Pro), rs768969618, gnomAD 4-2875928-T-C, REVEL 0.06, ESM-1b 0.00
- S5F (p.Ser5Phe), gnomAD 4-2875929-C-T, REVEL 0.08, ESM-1b 1.00
- S5Y (p.Ser5Tyr), gnomAD 4-2875929-C-A, REVEL 0.09, ESM-1b 1.00
- S5C (p.Ser5Cys), gnomAD 4-2875929-C-G, REVEL 0.06, ESM-1b 0.80
- S5S (p.Ser5Ser), rs1731208441, gnomAD 4-2875930-T-C, CADD 7.57
- R6C (p.Arg6Cys), rs2295497, cosmic curated COSV53269, UniProt VAR 022108, 1000Genomes rs2295497, REVEL 0.08, ESM-1b 1.00
- R6H (p.Arg6His), rs1731209577, gnomAD 4-2875932-G-A, REVEL 0.08, ESM-1b 0.16
- R6P (p.Arg6Pro), rs1731209577, gnomAD 4-2875932-G-C, REVEL 0.10, ESM-1b 0.00
- A7A (p.Ala7Ala), rs373384333, gnomAD 4-2875936-T-C, CADD 3.39
- A8V (p.Ala8Val), rs188077552, gnomAD 4-2875938-C-T, REVEL 0.05, ESM-1b 0.00
- A8E (p.Ala8Glu), gnomAD 4-2875938-C-A, REVEL 0.05, ESM-1b 0.00
- A8A (p.Ala8Ala), rs1171061259, gnomAD 4-2875939-G-A, CADD 5.90
- V9L (p.Val9Leu), rs191878690, gnomAD 4-2875940-G-T, REVEL 0.20, ESM-1b 1.00
- V9V (p.Val9Val), gnomAD 4-2875942-G-A, CADD 10.90
- V10M (p.Val10Met), rs773145477, gnomAD 4-2875943-G-A, REVEL 0.19, ESM-1b 1.00
- T11S (p.Thr11Ser), gnomAD 4-2875947-C-G, REVEL 0.22, ESM-1b 0.00
- T11I (p.Thr11Ile), gnomAD 4-2875947-C-T, REVEL 0.36, ESM-1b 1.00
- T11T (p.Thr11Thr), rs1335259129, gnomAD 4-2875948-C-T, CADD 10.90
- S12L (p.Ser12Leu), rs1342538275, gnomAD 4-2875950-C-T, REVEL 0.08, ESM-1b 1.00
- S12S (p.Ser12Ser), rs1433130616, gnomAD 4-2875951-A-G, CADD 13.10
- P13P (p.Pro13Pro), gnomAD 4-2875954-A-C, CADD 13.40
- P14A (p.Pro14Ala), gnomAD 4-2875955-C-G, REVEL 0.28, ESM-1b 1.00
- P14T (p.Pro14Thr), rs762826169, gnomAD 4-2875955-C-A, REVEL 0.25, ESM-1b 1.00
- P14L (p.Pro14Leu), gnomAD 4-2875956-C-T, REVEL 0.21, ESM-1b 1.00
- P14H (p.Pro14His), rs1731216234, gnomAD 4-2875956-C-A, REVEL 0.30, ESM-1b 1.00
- P14P (p.Pro14Pro), gnomAD 4-2875957-C-A, CADD 8.87
- P15R (p.Pro15Arg), gnomAD 4-2875954-AC-A, CADD 25.30
- P15T (p.Pro15Thr), rs774182118, gnomAD 4-2875958-C-A, REVEL 0.16, ESM-1b 1.00
- P15L (p.Pro15Leu), rs33915400, gnomAD 4-2875959-C-T, REVEL 0.13, ESM-1b 1.00
- P15P (p.Pro15Pro), rs140936293, gnomAD 4-2875960-G-A, CADD 5.64
- T16A (p.Thr16Ala), cosmic curated COSV11318, REVEL 0.11, ESM-1b 0.00
- T16N (p.Thr16Asn), rs1009943002, gnomAD 4-2875962-C-A, REVEL 0.14, ESM-1b 1.00
- T16I (p.Thr16Ile), gnomAD 4-2875962-C-T, REVEL 0.15, ESM-1b 0.30
- T16T (p.Thr16Thr), gnomAD 4-2875963-C-A, CADD 9.08
- p.Thr17 Ala18del, gnomAD 4-2875961-ACCACAG, CADD 19.90
- T17I (p.Thr17Ile), rs751001448, gnomAD 4-2875965-C-T, REVEL 0.12, ESM-1b 1.00
- A18G (p.Ala18Gly), rs759011632, gnomAD 4-2875968-C-G, REVEL 0.06, ESM-1b 0.00
- A18V (p.Ala18Val), rs759011632, gnomAD 4-2875968-C-T, REVEL 0.06, ESM-1b 0.00
- A18A (p.Ala18Ala), gnomAD 4-2875969-C-A, CADD 9.17
- P19H (p.Pro19His), cosmic curated COSV10959, REVEL 0.42, ESM-1b 1.00
- P19L (p.Pro19Leu), rs1210145135, NCI-TCGA Cosmic COSV9929, cosmic curated COSV99297, TOPMed rs1210145135, REVEL 0.38, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P19S (p.Pro19Ser), gnomAD 4-2875970-C-T, REVEL 0.36, ESM-1b 0.87
- H20L (p.His20Leu), cosmic curated COSV53271, gnomAD rs1463303135, REVEL 0.19, ESM-1b 1.00
- H20H (p.His20His), rs144130874, gnomAD 4-2875975-C-T, CADD 9.59
- H20Q (p.His20Gln), gnomAD 4-2875975-C-A, REVEL 0.18, ESM-1b 1.00
- K21K (p.Lys21Lys), rs1248208885, gnomAD 4-2875978-G-A, CADD 8.82
- E22D (p.Glu22Asp), rs1450809336, gnomAD 4-2875981-G-T, REVEL 0.22, ESM-1b 0.00
- R23S (p.Arg23Ser), rs1171127579, gnomAD 4-2875984-G-T, REVEL 0.10, ESM-1b 1.00
- R23R (p.Arg23Arg), rs1171127579, gnomAD 4-2875984-G-A, CADD 8.72
- Y24F (p.Tyr24Phe), gnomAD 4-2875986-A-T, REVEL 0.21, ESM-1b 1.00
- Y24Y (p.Tyr24Tyr), gnomAD 4-2875987-C-T, CADD 8.04
- F25L (p.Phe25Leu), gnomAD 4-2875988-T-C, REVEL 0.18, ESM-1b 1.00
- F25F (p.Phe25Phe), rs199855248, gnomAD 4-2875990-C-T, CADD 4.74
- D26E (p.Asp26Glu), cosmic curated COSV99296, gnomAD rs1173568394, REVEL 0.20, ESM-1b 1.00
- D26N (p.Asp26Asn), rs370911124, cosmic curated COSV99297, ESP rs370911124, ExAC rs370911124, REVEL 0.28, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R27* (p.Arg27Ter), cosmic curated COSV10608, NCI-TCGA TCGA novel, CADD 36.00, Variant assessed as somatic; high impact.
- R27R (p.Arg27Arg), gnomAD 4-2875994-C-A, CADD 8.73
- R27G (p.Arg27Gly), rs1404833391, gnomAD 4-2875994-C-G, REVEL 0.30, ESM-1b 1.00
- R27L (p.Arg27Leu), rs748260808, gnomAD 4-2875995-G-T, REVEL 0.47, ESM-1b 1.00
- R27Q (p.Arg27Gln), rs748260808, gnomAD 4-2875995-G-A, REVEL 0.23, ESM-1b 1.00
- V28A (p.Val28Ala), NCI-TCGA Cosmic COSV5326, cosmic curated COSV53266, REVEL 0.24, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- V28I (p.Val28Ile), gnomAD 4-2875997-G-A, REVEL 0.22, ESM-1b 1.00
- V28L (p.Val28Leu), rs769883303, gnomAD 4-2875997-G-T, REVEL 0.10, ESM-1b 1.00
- V28V (p.Val28Val), gnomAD 4-2875999-A-G, CADD 7.29
- D29H (p.Asp29His), NCI-TCGA Cosmic COSV5326, cosmic curated COSV53268, REVEL 0.45, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- D29Y (p.Asp29Tyr), rs374139420, gnomAD 4-2876000-G-T, REVEL 0.46, ESM-1b 1.00
- D29E (p.Asp29Glu), rs2108893858, gnomAD 4-2876002-T-G, REVEL 0.10, ESM-1b 1.00
- E30D (p.Glu30Asp), NCI-TCGA Cosmic COSV9929, cosmic curated COSV99296, REVEL 0.11, ESM-1b 0.03, Variant assessed as somatic; moderate impact.
- E30G (p.Glu30Gly), rs904476263, gnomAD 4-2876004-A-G, REVEL 0.46, ESM-1b 1.00
- N31K (p.Asn31Lys), gnomAD 4-2876008-C-A, REVEL 0.07, ESM-1b 1.00
- N32S (p.Asn32Ser), gnomAD 4-2876010-A-G, REVEL 0.08, ESM-1b 0.30
- P33A (p.Pro33Ala), gnomAD 4-2876012-C-G, REVEL 0.50, ESM-1b 1.00
- P33L (p.Pro33Leu), rs749350133, gnomAD 4-2876013-C-T, REVEL 0.60, ESM-1b 1.00
- E34D (p.Glu34Asp), NCI-TCGA Cosmic COSV5327, NCI-TCGA Cosmic COSV9929, cosmic curated COSV99296, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E34G (p.Glu34Gly), rs770915496, gnomAD 4-2876016-A-G, REVEL 0.33, ESM-1b 1.00
- E34E (p.Glu34Glu), gnomAD 4-2876017-G-A, CADD 5.85
- Y35C (p.Tyr35Cys), gnomAD 4-2876019-A-G, REVEL 0.37, ESM-1b 1.00
- L36L (p.Leu36Leu), gnomAD 4-2876021-T-C, CADD 8.92
- L36S (p.Leu36Ser), gnomAD 4-2876022-T-C, REVEL 0.13, ESM-1b 1.00
- R37R (p.Arg37Arg), rs774267803, gnomAD 4-2876026-G-A, CADD 9.96
- E38* (p.Glu38Ter), rs759381155, gnomAD 4-2876027-G-T, CADD 44.00
- E38G (p.Glu38Gly), rs771709417, gnomAD 4-2876028-A-G, REVEL 0.28, ESM-1b 1.00
- N40S (p.Asn40Ser), NCI-TCGA Cosmic COSV5327, cosmic curated COSV53274, REVEL 0.18, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- N40N (p.Asn40Asn), gnomAD 4-2876035-C-T, CADD 10.80
- M41I (p.Met41Ile), cosmic curated COSV53272, REVEL 0.32, ESM-1b 1.00
- M41V (p.Met41Val), gnomAD 4-2876036-A-G, REVEL 0.36, ESM-1b 1.00
- M41L (p.Met41Leu), gnomAD 4-2876036-A-T, REVEL 0.32, ESM-1b 1.00
- M41K (p.Met41Lys), rs965242105, gnomAD 4-2876037-T-A, REVEL 0.46, ESM-1b 1.00
- A42V (p.Ala42Val), rs775234697, gnomAD 4-2876040-C-T, REVEL 0.23, ESM-1b 1.00
- P43S (p.Pro43Ser), NCI-TCGA Cosmic COSV9929, cosmic curated COSV99296, REVEL 0.31, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P43R (p.Pro43Arg), rs760207694, gnomAD 4-2876043-C-G, REVEL 0.42, ESM-1b 1.00
- P43P (p.Pro43Pro), rs146519461, gnomAD 4-2876044-A-C, CADD 5.56
- D44N (p.Asp44Asn), gnomAD 4-2876045-G-A, REVEL 0.22, ESM-1b 1.00
- D44H (p.Asp44His), gnomAD 4-2876045-G-C, REVEL 0.59, ESM-1b 1.00
- D44E (p.Asp44Glu), gnomAD 4-2876047-C-A, REVEL 0.23, ESM-1b 1.00
- L45V (p.Leu45Val), rs1731236841, gnomAD 4-2876048-C-G, REVEL 0.21, ESM-1b 0.75
- L45I (p.Leu45Ile), rs1731236841, gnomAD 4-2876048-C-A, REVEL 0.15, ESM-1b 1.00
- L45R (p.Leu45Arg), gnomAD 4-2876049-T-G, REVEL 0.68, ESM-1b 1.00
- L45L (p.Leu45Leu), rs1189000760, gnomAD 4-2876050-T-C, CADD 9.84
- R46C (p.Arg46Cys), cosmic curated COSV53276, ExAC rs761391265, gnomAD rs761391265, REVEL 0.33, ESM-1b 1.00
- R46H (p.Arg46His), rs767055661, NCI-TCGA Cosmic COSV5327, cosmic curated COSV53271, ExAC rs767055661, REVEL 0.46, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R46L (p.Arg46Leu), rs767055661, gnomAD 4-2876052-G-T, REVEL 0.48, ESM-1b 1.00
- R46P (p.Arg46Pro), gnomAD 4-2876052-G-C, REVEL 0.56, ESM-1b 1.00
- Q47* (p.Gln47Ter), cosmic curated COSV53269
- Q47H (p.Gln47His), cosmic curated COSV10728, REVEL 0.27, ESM-1b 1.00
- Q47E (p.Gln47Glu), gnomAD 4-2876054-C-G, REVEL 0.12, ESM-1b 1.00
- Q47L (p.Gln47Leu), rs755382822, gnomAD 4-2876055-A-T, REVEL 0.40, ESM-1b 1.00
- D48G (p.Asp48Gly), gnomAD 4-2876058-A-G, REVEL 0.58, ESM-1b 1.00
- F49L (p.Phe49Leu), gnomAD 4-2876062-C-A, REVEL 0.18, ESM-1b 1.00
- N50T (p.Asn50Thr), gnomAD 4-2876064-A-C, REVEL 0.23, ESM-1b 1.00
- N50S (p.Asn50Ser), rs781360063, gnomAD 4-2876064-A-G, REVEL 0.14, ESM-1b 1.00
- N50N (p.Asn50Asn), gnomAD 4-2876065-C-T, CADD 4.72
- M51I (p.Met51Ile), rs140325938, cosmic curated COSV53271, 1000Genomes rs140325938, ESP rs140325938, REVEL 0.19, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- M51L (p.Met51Leu), gnomAD 4-2876065-C-CTT, CADD 27.40
- M51V (p.Met51Val), gnomAD 4-2876066-A-G, REVEL 0.30, ESM-1b 1.00
- M51T (p.Met51Thr), gnomAD 4-2876067-T-C, REVEL 0.13, ESM-1b 1.00
- M52V (p.Met52Val), rs374585294, gnomAD 4-2876069-A-G, REVEL 0.36, ESM-1b 1.00
- Q54K (p.Gln54Lys), cosmic curated COSV10458, REVEL 0.19, ESM-1b 1.00
- K55N (p.Lys55Asn), cosmic curated COSV11318, REVEL 0.09, ESM-1b 1.00
- K56K (p.Lys56Lys), rs553213156, gnomAD 4-2876083-G-A, CADD 12.50
- R57M (p.Arg57Met), rs1224720801, gnomAD 4-2876085-G-T, REVEL 0.64, ESM-1b 1.00
- R57R (p.Arg57Arg), rs1731243344, gnomAD 4-2876086-G-A, CADD 8.52
- V58A (p.Val58Ala), cosmic curated COSV53276, gnomAD rs1389738240, REVEL 0.64, ESM-1b 1.00
- V58V (p.Val58Val), rs749438475, gnomAD 4-2876089-G-A, CADD 14.80
- S59P (p.Ser59Pro), gnomAD 4-2876090-T-C, REVEL 0.27, ESM-1b 1.00
- M60K (p.Met60Lys), cosmic curated COSV99296, REVEL 0.24, ESM-1b 1.00
- M60L (p.Met60Leu), cosmic curated COSV11318, REVEL 0.16, ESM-1b 0.00
- M60V (p.Met60Val), rs770932159, gnomAD 4-2876093-A-G, REVEL 0.14, ESM-1b 1.00
- L62L (p.Leu62Leu), gnomAD 4-2876101-G-A, CADD 6.52
- Q63H (p.Gln63His), rs1290513404, gnomAD 4-2876104-A-C, REVEL 0.36, ESM-1b 1.00
- S64T (p.Ser64Thr), gnomAD 4-2876106-G-C, REVEL 0.41, ESM-1b 1.00
- P65H (p.Pro65His), NCI-TCGA Cosmic COSV9929, cosmic curated COSV99296, REVEL 0.44, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P65S (p.Pro65Ser), gnomAD 4-2876108-C-T, REVEL 0.33, ESM-1b 1.00
- P65L (p.Pro65Leu), gnomAD 4-2876109-C-T, REVEL 0.46, ESM-1b 1.00
- P65P (p.Pro65Pro), gnomAD 4-2876110-T-C, CADD 6.73
- A66S (p.Ala66Ser), gnomAD 4-2881898-G-T, REVEL 0.20, ESM-1b 0.00
- A66T (p.Ala66Thr), gnomAD 4-2881898-G-A, REVEL 0.20, ESM-1b 1.00
- A66V (p.Ala66Val), gnomAD 4-2881899-C-T, REVEL 0.21, ESM-1b 1.00
- A66G (p.Ala66Gly), rs777977683, gnomAD 4-2881899-C-G, REVEL 0.17, ESM-1b 1.00
- A66D (p.Ala66Asp), gnomAD 4-2881899-C-A, REVEL 0.29, ESM-1b 1.00
- A66A (p.Ala66Ala), rs754003824, gnomAD 4-2881900-T-C, CADD 12.10
- F67L (p.Phe67Leu), gnomAD 4-2881901-T-C, REVEL 0.61, ESM-1b 1.00
- F67F (p.Phe67Phe), rs757352719, gnomAD 4-2881903-C-T, CADD 11.40
- E69A (p.Glu69Ala), rs745933841, gnomAD 4-2881908-A-C, REVEL 0.29, ESM-1b 1.00
- E69G (p.Glu69Gly), rs745933841, gnomAD 4-2881908-A-G, REVEL 0.31, ESM-1b 1.00
- E70* (p.Glu70Ter), cosmic curated COSV53274
- E70E (p.Glu70Glu), gnomAD 4-2881912-A-G, CADD 1.04
- L71L (p.Leu71Leu), rs1318811322, gnomAD 4-2881913-T-C, CADD 1.80
- E72K (p.Glu72Lys), gnomAD 4-2881916-G-A, REVEL 0.56, ESM-1b 1.00
- S73* (p.Ser73Ter), cosmic curated COSV10878
- S73L (p.Ser73Leu), rs200647918, gnomAD 4-2881920-C-T, REVEL 0.09, ESM-1b 1.00
- S73S (p.Ser73Ser), gnomAD 4-2881921-A-C, CADD 2.85
- M74del (p.Met74del), gnomAD 4-2881920-CAAT-C, CADD 19.20
- Q76K (p.Gln76Lys), rs371281109, gnomAD 4-2881928-C-A, REVEL 0.29, ESM-1b 1.00
- Q76E (p.Gln76Glu), gnomAD 4-2881928-C-G, REVEL 0.14, ESM-1b 1.00
- Q76R (p.Gln76Arg), gnomAD 4-2881929-A-G, REVEL 0.38, ESM-1b 1.00
- E77G (p.Glu77Gly), gnomAD 4-2881932-A-G, REVEL 0.29, ESM-1b 1.00
- E77E (p.Glu77Glu), gnomAD 4-2881933-G-A, CADD 7.37
- F79L (p.Phe79Leu), gnomAD 4-2881939-T-G, REVEL 0.20, ESM-1b 0.00
- G82C (p.Gly82Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G82E (p.Gly82Glu), NCI-TCGA Cosmic COSV9929, cosmic curated COSV99296, REVEL 0.56, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G82V (p.Gly82Val), cosmic curated COSV99296, REVEL 0.71, ESM-1b 1.00
- K83E (p.Lys83Glu), rs1180418096, gnomAD 4-2881949-A-G, REVEL 0.36, ESM-1b 1.00
- P85A (p.Pro85Ala), rs1424603008, gnomAD 4-2881955-C-G, REVEL 0.22, ESM-1b 1.00
- P85P (p.Pro85Pro), rs754305003, gnomAD 4-2881957-C-T, CADD 11.40
- T86A (p.Thr86Ala), rs891836805, gnomAD 4-2881958-A-G, REVEL 0.24, ESM-1b 1.00
- T86I (p.Thr86Ile), gnomAD 4-2881959-C-T, REVEL 0.35, ESM-1b 1.00
- T86T (p.Thr86Thr), rs1388430378, gnomAD 4-2881960-A-G, CADD 10.30
- G87C (p.Gly87Cys), cosmic curated COSV99296, REVEL 0.29, ESM-1b 1.00
- G87V (p.Gly87Val), NCI-TCGA Cosmic COSV9929, cosmic curated COSV99296, REVEL 0.37, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G87D (p.Gly87Asp), rs1429127041, gnomAD 4-2881962-G-A, REVEL 0.27, ESM-1b 1.00
- G87G (p.Gly87Gly), gnomAD 4-2881963-C-T, CADD 11.10
- L88I (p.Leu88Ile), rs780023838, gnomAD 4-2881964-C-A, REVEL 0.15, ESM-1b 1.00
- L88L (p.Leu88Leu), rs746863295, gnomAD 4-2881966-A-G, CADD 3.47
- L89L (p.Leu89Leu), rs1445630111, gnomAD 4-2881967-T-C, CADD 5.47
Public ADD1 analysis runs
- ADD1 analysis run — ADD1 (596 variants) — completed 2026-10-29