RAI1 (Retinoic acid-induced protein 1) variants and mutations
RAI1 (also known as Retinoic acid-induced protein 1) is a human protein-coding gene encoding a retinoic acid-induced protein 1 protein. A transcriptional regulator involved in circadian-clock gene expression and neurodevelopment. Reduced dosage causes Smith-Magenis syndrome, which commonly affects sleep and behavior. This analysis covers 2,689 RAI1 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes thyroid gland carcinoma, stroke disorder, and alcohol drinking. Example RAI1 variants include Q2R, Q2E, and S3A.
Variant analysis overview
- Gene: RAI1
- Protein: Retinoic acid-induced protein 1
- UniProt accession: Q7Z5J4
- Organism: Homo sapiens
- Variants analyzed: 2689
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 2,452 unspecified-consequence records; 144 missense variants; 7 in-frame insertions; 168 synonymous variants; 12 frameshift variants; 19 in-frame deletions; 1 stop-gained variants; 1 substitution
- Prediction scores: 2,609 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 3 disease associations are represented. Top associations: thyroid gland carcinoma, stroke disorder, alcohol drinking.
Protein structure and variant hotspots
- Protein features: 16 post-translational modification sites.
- PTM context: 19 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, ClinGen, MaveDB, LitVar.
Diseases linked to RAI1
Notable RAI1 variants
Examples include Q2R, Q2E, S3A, S3F, S3P, F4S, F4V, F4F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- Q2R (p.Gln2Arg), rs2143001428, ClinGen CA398544543, ClinVar RCV001888387, Ensembl rs2143001428, REVEL 0.47, ESM-1b 0.00, Likely benign, not provided
- Q2E (p.Gln2Glu), gnomAD 17-17792952-C-G, REVEL 0.32, ESM-1b 0.00
- S3A (p.Ser3Ala), rs2032075366, ClinGen CA398544549, cosmic curated COSV11384, ClinVar RCV003560545, ESM-1b 0.00, AlphaMissense 0.66, Uncertain significance, not provided
- S3F (p.Ser3Phe), TOPMed rs200860391, REVEL 0.54, ESM-1b 0.00, Uncertain significance, RAI1-related disorder
- S3P (p.Ser3Pro), gnomAD 17-17792955-T-C, REVEL 0.54, ESM-1b 0.00
- F4S (p.Phe4Ser), gnomAD rs1168751598, REVEL 0.66, ESM-1b 0.00
- F4V (p.Phe4Val), gnomAD 17-17792958-T-G, REVEL 0.65, ESM-1b 0.00
- F4F (p.Phe4Phe), rs755209169, gnomAD 17-17792960-T-C, CADD 12.30
- F4L (p.Phe4Leu), gnomAD 17-17792960-T-G, REVEL 0.49, ESM-1b 0.00
- R5* (p.Arg5Ter), rs2143001434, ClinGen CA398544561, NCI-TCGA Cosmic COSV5539, cosmic curated COSV55397, Pathogenic
- R5P (p.Arg5Pro), ExAC rs781312985, TOPMed rs781312985, gnomAD rs781312985, REVEL 0.69, ESM-1b 0.00, Uncertain significance
- R5Q (p.Arg5Gln), rs781312985, ClinGen CA8418027, ClinVar RCV003299074, ClinVar RCV003699058, REVEL 0.48, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- p.Arg5dup, gnomAD 17-17792960-T-TCG, CADD 16.50
- R5R (p.Arg5Arg), rs769715744, gnomAD 17-17792963-A-G, CADD 13.30
- R7G (p.Arg7Gly), rs201842299, NCI-TCGA Cosmic COSV9988, cosmic curated COSV99885, gnomAD rs201842299, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not provided
- R7K (p.Arg7Lys), TOPMed rs2032076181, ESM-1b 0.00, AlphaMissense 0.58
- R7W (p.Arg7Trp), gnomAD rs201842299, REVEL 0.37, ESM-1b 0.00
- R7S (p.Arg7Ser), gnomAD 17-17792969-G-C, REVEL 0.23, ESM-1b 0.00
- R7R (p.Arg7Arg), rs777846161, gnomAD 17-17792969-G-A, CADD 12.00
- C8G (p.Cys8Gly), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55396, ESM-1b 0.00, AlphaMissense 0.43, Variant assessed as somatic; moderate impact.
- C8S (p.Cys8Ser), Ensembl rs1598086549, ESM-1b 0.00, AlphaMissense 0.55
- C8Y (p.Cys8Tyr), rs1284948039, ClinGen CA398544580, ClinVar RCV001963366, gnomAD rs1284948039, REVEL 0.38, ESM-1b 0.00, Uncertain significance, not provided
- G9A (p.Gly9Ala), gnomAD 17-17792974-G-C, REVEL 0.29, ESM-1b 0.00
- F10V (p.Phe10Val), gnomAD rs2032076527, REVEL 0.46, ESM-1b 0.00
- F10F (p.Phe10Phe), rs1324518698, gnomAD 17-17792978-C-T, CADD 12.20
- H11L (p.His11Leu), TOPMed rs2032076710, REVEL 0.53, ESM-1b 0.00
- H11R (p.His11Arg), TOPMed rs2032076710, REVEL 0.49, ESM-1b 0.00
- H11Y (p.His11Tyr), rs2143001441, ClinGen CA398544601, ClinVar RCV002010373, Ensembl rs2143001441, REVEL 0.41, ESM-1b 0.00, Uncertain significance, not provided
- H11H (p.His11His), gnomAD 17-17792981-T-C, CADD 11.40
- G12C (p.Gly12Cys), rs1598086557, ClinGen CA398544608, ClinVar RCV003578878, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance, not provided
- G12D (p.Gly12Asp), rs2143001443, ClinGen CA398544610, ClinVar RCV002036658, Ensembl rs2143001443, ESM-1b 0.00, AlphaMissense 0.77, Likely benign, not provided
- G12S (p.Gly12Ser), Ensembl rs1598086557, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance
- K13E (p.Lys13Glu), gnomAD 17-17792985-A-G, REVEL 0.18, ESM-1b 0.00
- Q14Q (p.Gln14Gln), gnomAD 17-17792990-A-G, CADD 6.70
- Q15E (p.Gln15Glu), gnomAD 17-17792991-C-G, REVEL 0.11, ESM-1b 0.00
- Q15Q (p.Gln15Gln), gnomAD 17-17792993-G-A, CADD 8.70
- N16N (p.Asn16Asn), rs2032076922, gnomAD 17-17792996-C-T, CADD 10.20
- Y17H (p.Tyr17His), gnomAD 17-17792997-T-C, REVEL 0.59, ESM-1b 0.00
- Q18E (p.Gln18Glu), gnomAD 17-17793000-C-G, REVEL 0.08, ESM-1b 0.00
- Q19L (p.Gln19Leu), gnomAD rs1163199042, REVEL 0.06, ESM-1b 0.00
- Q19R (p.Gln19Arg), gnomAD 17-17793004-A-G, REVEL 0.06, ESM-1b 0.00
- Q19H (p.Gln19His), gnomAD 17-17793005-G-T, REVEL 0.09, ESM-1b 0.00
- Q19Q (p.Gln19Gln), gnomAD 17-17793005-G-A, CADD 9.28
- T20A (p.Thr20Ala), gnomAD 17-17793006-A-G, REVEL 0.10, ESM-1b 0.00
- T20T (p.Thr20Thr), rs1000401023, gnomAD 17-17793008-C-G, CADD 9.81
- S21L (p.Ser21Leu), rs1226187697, ClinGen CA398544678, cosmic curated COSV10608, ClinVar RCV002274643, REVEL 0.12, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- S21W (p.Ser21Trp), TOPMed rs1226187697, gnomAD rs1226187697, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- S21S (p.Ser21Ser), rs749158649, gnomAD 17-17793011-G-T, CADD 0.59
- Q22H (p.Gln22His), gnomAD rs2032077562, REVEL 0.15, ESM-1b 0.00
- Q22K (p.Gln22Lys), rs1031886321, ClinGen CA288366756, ClinVar RCV002927730, ClinVar RCV005724875, REVEL 0.12, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- Q22P (p.Gln22Pro), ExAC rs770921979, gnomAD rs770921979, ESM-1b 0.00, AlphaMissense 0.08
- Q22R (p.Gln22Arg), gnomAD 17-17793013-A-G, REVEL 0.12, ESM-1b 0.00
- E23Q (p.Glu23Gln), rs1376549670, NCI-TCGA Cosmic COSV9988, cosmic curated COSV99883, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T24A (p.Thr24Ala), TOPMed rs1219623942, gnomAD rs1219623942, REVEL 0.03, ESM-1b 0.00
- S25T (p.Ser25Thr), rs891764320, ClinGen CA288366761, ClinVar RCV002197824, ClinVar RCV003403675, REVEL 0.14, ESM-1b 0.00, Likely benign, not provided
- S25P (p.Ser25Pro), gnomAD 17-17793021-T-C, REVEL 0.13, ESM-1b 0.00
- S25S (p.Ser25Ser), rs1046435873, gnomAD 17-17793023-A-G, CADD 6.69
- R26C (p.Arg26Cys), rs376964045, ClinGen CA8418033, ClinVar RCV001619211, ClinVar RCV001821931, REVEL 0.68, ESM-1b 0.00, Conflicting interpretations, not provided; not specified; Inborn genetic diseases
- R26G (p.Arg26Gly), ESP rs376964045, ExAC rs376964045, TOPMed rs376964045, gnomAD rs376964045, REVEL 0.59, ESM-1b 0.00, Likely benign
- R26H (p.Arg26His), rs139160898, ClinGen CA8418035, cosmic curated COSV55390, ClinVar RCV004445595, REVEL 0.59, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- R26L (p.Arg26Leu), rs139160898, ClinGen CA398544708, ClinVar RCV003548782, ESM-1b 0.00, AlphaMissense 0.25, Uncertain significance, not provided
- p.Arg26dup, gnomAD 17-17793022-C-CAC, CADD 18.70
- R26P (p.Arg26Pro), gnomAD 17-17793025-G-C, REVEL 0.62, ESM-1b 0.00
- L27L (p.Leu27Leu), gnomAD 17-17793027-C-T, CADD 10.80
- E28Q (p.Glu28Gln), gnomAD 17-17793030-G-C, REVEL 0.36, ESM-1b 0.00
- E28E (p.Glu28Glu), gnomAD 17-17793032-G-A, CADD 10.80
- N29Y (p.Asn29Tyr), ExAC rs774955084, TOPMed rs774955084, gnomAD rs774955084, REVEL 0.14, ESM-1b 0.00, Benign, not provided
- N29I (p.Asn29Ile), gnomAD 17-17793031-AG-A, CADD 27.10
- Y30C (p.Tyr30Cys), gnomAD rs1428329084, REVEL 0.38, ESM-1b 0.00
- Y30D (p.Tyr30Asp), gnomAD 17-17793036-T-G, REVEL 0.54, ESM-1b 0.51
- Y30Y (p.Tyr30Tyr), rs760386467, gnomAD 17-17793038-C-T, CADD 8.25
- R31G (p.Arg31Gly), TOPMed rs1439074466, gnomAD rs1439074466, REVEL 0.25, ESM-1b 0.00
- R31K (p.Arg31Lys), Ensembl rs2032078665, ESM-1b 0.00, AlphaMissense 0.34
- Q32Q (p.Gln32Gln), rs763628165, gnomAD 17-17793044-G-A, CADD 9.40
- P33L (p.Pro33Leu), rs753461570, ClinGen CA8418039, ClinVar RCV001880724, ClinVar RCV004690155, REVEL 0.09, ESM-1b 0.00, Conflicting interpretations, not provided; not specified; RAI1-related disorder
- P33A (p.Pro33Ala), gnomAD 17-17793043-AGCCG, CADD 27.10
- P33R (p.Pro33Arg), gnomAD 17-17793046-C-G, REVEL 0.07, ESM-1b 0.00
- P33P (p.Pro33Pro), rs763536783, gnomAD 17-17793047-G-A, CADD 4.64
- S34I (p.Ser34Ile), ExAC rs767047134, TOPMed rs767047134, gnomAD rs767047134, ESM-1b 0.02, AlphaMissense 0.25, Benign
- S34N (p.Ser34Asn), rs767047134, ClinGen CA8418041, ClinVar RCV002153652, ClinVar RCV002363681, REVEL 0.13, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- Q35R (p.Gln35Arg), TOPMed rs1448094321, gnomAD rs1448094321, REVEL 0.27, ESM-1b 0.00
- A36T (p.Ala36Thr), gnomAD 17-17793054-G-A, REVEL 0.15, ESM-1b 0.00
- A36A (p.Ala36Ala), rs117150161, gnomAD 17-17793056-C-T, CADD 8.56
- G37E (p.Gly37Glu), ExAC rs781638677, gnomAD rs781638677, REVEL 0.08, ESM-1b 0.00
- G37R (p.Gly37Arg), rs201393598, ClinGen CA8418043, ClinVar RCV000502371, ClinVar RCV001857156, REVEL 0.12, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not specified; Smith-Magenis syndrome
- G37G (p.Gly37Gly), rs1382448746, gnomAD 17-17793059-G-T, CADD 10.70
- L38R (p.Leu38Arg), ExAC rs752806351, gnomAD rs752806351, REVEL 0.13, ESM-1b 0.00
- S39I (p.Ser39Ile), rs2143001466, ClinGen CA398544791, ClinVar RCV001977686, ClinVar RCV004720351, ESM-1b 0.00, AlphaMissense 0.33, Conflicting interpretations, Smith-Magenis syndrome; RAI1-related disorder; not provided
- C40F (p.Cys40Phe), 1000Genomes rs577650444, ExAC rs577650444, TOPMed rs577650444, gnomAD rs577650444, REVEL 0.19, ESM-1b 0.00, Uncertain significance, RAI1-related disorder
- C40G (p.Cys40Gly), rs2508566908, ClinGen CA398544794, ClinVar RCV003561613, ESM-1b 0.00, AlphaMissense 0.59, Uncertain significance, not provided
- C40Y (p.Cys40Tyr), 1000Genomes rs577650444, ExAC rs577650444, TOPMed rs577650444, gnomAD rs577650444, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- C40T (p.Cys40Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C40W (p.Cys40Trp), gnomAD 17-17793068-C-G, REVEL 0.24, ESM-1b 0.00
- C40C (p.Cys40Cys), rs777826104, gnomAD 17-17793068-C-T, CADD 8.60
- D41N (p.Asp41Asn), rs749428152, ClinGen CA8418048, ClinVar RCV003669087, ExAC rs749428152, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not provided
- D41Y (p.Asp41Tyr), ExAC rs749428152, gnomAD rs749428152, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- D41A (p.Asp41Ala), gnomAD 17-17793070-A-C, REVEL 0.12, ESM-1b 0.00
- D41D (p.Asp41Asp), rs1379982771, gnomAD 17-17793071-C-T, CADD 8.66
- R42G (p.Arg42Gly), 1000Genomes rs200677855, ExAC rs200677855, TOPMed rs200677855, gnomAD rs200677855, ESM-1b 0.00, AlphaMissense 0.60, Uncertain significance
- R42P (p.Arg42Pro), ExAC rs200367247, TOPMed rs200367247, gnomAD rs200367247, ESM-1b 0.00, AlphaMissense 0.76, Likely benign
- R42Q (p.Arg42Gln), rs200367247, ClinGen CA8418050, cosmic curated COSV55390, ClinVar RCV001989601, REVEL 0.16, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- R42W (p.Arg42Trp), rs200677855, ClinGen CA8418049, cosmic curated COSV10963, ClinVar RCV003002809, REVEL 0.21, ESM-1b 0.65, Uncertain significance, RAI1-related disorder; not provided
- R42R (p.Arg42Arg), gnomAD 17-17793072-C-A, CADD 12.20
- R42L (p.Arg42Leu), gnomAD 17-17793073-G-T, REVEL 0.21, ESM-1b 0.00
- Q43Q (p.Gln43Gln), rs373365549, gnomAD 17-17793077-G-A, CADD 9.10
- R44L (p.Arg44Leu), 1000Genomes rs149701833, ESP rs149701833, ExAC rs149701833, TOPMed rs149701833, ESM-1b 0.00, AlphaMissense 0.51, Benign
- R44Q (p.Arg44Gln), rs149701833, ClinGen CA8418053, ClinVar RCV002385654, ClinVar RCV003103643, REVEL 0.15, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not provided
- R44W (p.Arg44Trp), rs771704970, ClinGen CA8418052, ClinVar RCV002089193, ExAC rs771704970, REVEL 0.24, ESM-1b 0.39, Likely benign, not provided
- L45M (p.Leu45Met), rs746633997, ClinGen CA8418054, ClinVar RCV003572723, ExAC rs746633997, REVEL 0.09, ESM-1b 0.00, Benign, not provided
- L45P (p.Leu45Pro), TOPMed rs1030034276, ESM-1b 0.00, AlphaMissense 0.30
- L45L (p.Leu45Leu), gnomAD 17-17793081-C-T, CADD 11.20
- L46I (p.Leu46Ile), gnomAD rs1264382724, REVEL 0.05, ESM-1b 0.00
- p.Leu46 Lys48del, rs1402735523, gnomAD 17-17793082-TGCTC, CADD 19.50
- L46L (p.Leu46Leu), rs115379597, gnomAD 17-17793086-C-A, CADD 5.75
- A47T (p.Ala47Thr), rs398124413, ClinGen CA149325, cosmic curated COSV10963, ClinVar RCV000082256, REVEL 0.15, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not specified; not provided
- A47V (p.Ala47Val), gnomAD rs1385909374, REVEL 0.10, ESM-1b 0.00
- A47A (p.Ala47Ala), gnomAD 17-17793089-C-T, CADD 13.00
- K48T (p.Lys48Thr), Ensembl rs1598086719, REVEL 0.21, ESM-1b 0.00
- K48K (p.Lys48Lys), rs2034249819, gnomAD 17-17793092-G-A, CADD 11.10
- D49N (p.Asp49Asn), rs370209009, ClinGen CA8418058, ClinVar RCV003814704, ESP rs370209009, REVEL 0.06, ESM-1b 0.00, Benign, not provided
- D49Y (p.Asp49Tyr), rs370209009, ClinGen CA8418057, ClinVar RCV002301528, ClinVar RCV004744341, REVEL 0.12, ESM-1b 0.39, Benign, not provided
- D49D (p.Asp49Asp), rs1166756904, gnomAD 17-17793095-C-T, CADD 8.18
- Y50C (p.Tyr50Cys), rs1382756452, ClinGen CA398544853, ClinVar RCV002006306, ClinVar RCV003170409, REVEL 0.21, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided; RAI1-related disorder
- Y51* (p.Tyr51Ter), rs961308480, ClinGen CA398544863, ClinVar RCV001267215, TOPMed rs961308480, Pathogenic
- Y51D (p.Tyr51Asp), gnomAD 17-17793099-T-G, REVEL 0.28, ESM-1b 0.00
- Y51Y (p.Tyr51Tyr), rs961308480, gnomAD 17-17793101-T-C, CADD 3.09
- N52D (p.Asn52Asp), gnomAD rs2032081968, REVEL 0.08, ESM-1b 0.00
- N52S (p.Asn52Ser), TOPMed rs1361997890, gnomAD rs1361997890, REVEL 0.07, ESM-1b 0.00
- N52K (p.Asn52Lys), gnomAD 17-17793104-C-A, REVEL 0.05, ESM-1b 0.00
- P53L (p.Pro53Leu), rs200021318, ClinGen CA8418059, cosmic curated COSV99885, ClinVar RCV002125096, REVEL 0.06, ESM-1b 0.00, Benign, not provided
- P53A (p.Pro53Ala), gnomAD 17-17793105-C-G, REVEL 0.09, ESM-1b 0.00
- P53T (p.Pro53Thr), gnomAD 17-17793105-C-A, REVEL 0.04, ESM-1b 0.00
- P53P (p.Pro53Pro), rs767708787, gnomAD 17-17793107-G-A, CADD 8.19
- Q54H (p.Gln54His), ExAC rs756317126, TOPMed rs756317126, gnomAD rs756317126, ESM-1b 0.00, AlphaMissense 0.33
- Q54P (p.Gln54Pro), rs753174507, ClinGen CA8418061, ClinVar RCV003016244, ExAC rs753174507, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not provided
- Q54R (p.Gln54Arg), gnomAD 17-17793109-A-G, REVEL 0.15, ESM-1b 0.00
- Q54Q (p.Gln54Gln), rs756317126, gnomAD 17-17793110-G-A, CADD 9.40
- P55A (p.Pro55Ala), ExAC rs764349627, gnomAD rs764349627, REVEL 0.14, ESM-1b 0.00
- P55S (p.Pro55Ser), rs764349627, NCI-TCGA Cosmic COSV9988, cosmic curated COSV99885, ExAC rs764349627, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P55T (p.Pro55Thr), gnomAD 17-17793111-C-A, REVEL 0.13, ESM-1b 0.00
- Y56Y (p.Tyr56Tyr), rs1382828277, gnomAD 17-17793116-C-T, CADD 5.01
- P57L (p.Pro57Leu), rs1229553889, ClinGen CA398544903, ClinVar RCV002663624, TOPMed rs1229553889, REVEL 0.05, ESM-1b 0.00, Benign, not provided
- P57Q (p.Pro57Gln), TOPMed rs1229553889, gnomAD rs1229553889, REVEL 0.06, ESM-1b 0.00, Benign
- P57P (p.Pro57Pro), rs963548984, gnomAD 17-17793119-G-A, CADD 0.51
- S58I (p.Ser58Ile), cosmic curated COSV55396, TOPMed rs1488017236, gnomAD rs1488017236, REVEL 0.09, ESM-1b 0.41, Benign
- S58T (p.Ser58Thr), rs1488017236, ClinGen CA398544908, ClinVar RCV003210369, ClinVar RCV003720799, REVEL 0.04, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- Y59C (p.Tyr59Cys), rs1240460489, ClinGen CA398544915, ClinVar RCV002253128, ClinVar RCV003126206, REVEL 0.18, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided; See cases
- Y59F (p.Tyr59Phe), gnomAD rs1240460489, REVEL 0.05, ESM-1b 0.00, Likely benign
- Y59H (p.Tyr59His), ExAC rs754090003, gnomAD rs754090003, REVEL 0.20, ESM-1b 0.00, Benign, not provided
- E60K (p.Glu60Lys), gnomAD 17-17793126-G-A, REVEL 0.09, ESM-1b 0.00
- G61S (p.Gly61Ser), ExAC rs757277582, gnomAD rs757277582, REVEL 0.11, ESM-1b 0.00
- G62G (p.Gly62Gly), rs202240310, gnomAD 17-17793134-C-T, CADD 6.20
- A63T (p.Ala63Thr), rs758424396, ClinGen CA8418068, cosmic curated COSV55397, ClinVar RCV001530850, REVEL 0.01, ESM-1b 0.00, Benign/Likely benign, not provided; Inborn genetic diseases; not specified
- G64R (p.Gly64Arg), rs779697086, ClinGen CA8418069, ClinVar RCV003007539, ExAC rs779697086, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- G64A (p.Gly64Ala), gnomAD 17-17793139-G-C, REVEL 0.08, ESM-1b 0.00
- G64G (p.Gly64Gly), gnomAD 17-17793140-C-T, CADD 7.59
- T65M (p.Thr65Met), rs530411834, ClinGen CA8418070, ClinVar RCV002890988, ClinVar RCV002912911, REVEL 0.06, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not provided
- T65T (p.Thr65Thr), rs377342940, gnomAD 17-17793143-G-C, CADD 1.06
- P66A (p.Pro66Ala), gnomAD rs1249978176, REVEL 0.05, ESM-1b 0.00
- P66L (p.Pro66Leu), gnomAD rs1418405708, REVEL 0.10, ESM-1b 0.00
- S67P (p.Ser67Pro), rs2143001498, ClinGen CA398544960, ClinVar RCV001975537, ClinVar RCV003401990, REVEL 0.02, ESM-1b 0.00, Conflicting interpretations, RAI1-related disorder; not provided
- G68A (p.Gly68Ala), NCI-TCGA Cosmic COSV9988, cosmic curated COSV99883, Variant assessed as somatic; moderate impact.
- G68V (p.Gly68Val), Ensembl rs1598086822, ESM-1b 0.00, AlphaMissense 0.10
- T69S (p.Thr69Ser), rs776386424, ClinGen CA8418072, ClinVar RCV003118338, ExAC rs776386424, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- A70A (p.Ala70Ala), rs1567913336, gnomAD 17-17793158-A-G, CADD 0.21
- A71G (p.Ala71Gly), gnomAD 17-17793160-C-G, REVEL 0.06, ESM-1b 0.00
- A71A (p.Ala71Ala), gnomAD 17-17793161-C-G, CADD 3.17
- A72E (p.Ala72Glu), ExAC rs772784544, TOPMed rs772784544, gnomAD rs772784544, ESM-1b 0.00, AlphaMissense 0.30, Uncertain significance
- A72P (p.Ala72Pro), ESP rs370671656, ExAC rs370671656, TOPMed rs370671656, gnomAD rs370671656, REVEL 0.03, ESM-1b 0.00, Benign
- A72S (p.Ala72Ser), rs370671656, ClinGen CA398544988, ClinVar RCV003318847, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, not provided
- A72T (p.Ala72Thr), rs370671656, ClinGen CA205889, cosmic curated COSV55396, ClinVar RCV000192805, REVEL 0.01, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not specified; not provided
- A72V (p.Ala72Val), ExAC rs772784544, TOPMed rs772784544, gnomAD rs772784544, REVEL 0.10, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; RAI1-related disorder; not provided
- A72del (p.Ala72del), rs755959412, gnomAD 17-17793158-AGCC-, CADD 6.55
- A72A (p.Ala72Ala), rs759958067, gnomAD 17-17793164-G-A, CADD 0.38
- V73M (p.Val73Met), TOPMed rs1449867363, gnomAD rs1449867363, REVEL 0.08, ESM-1b 0.00
- V73L (p.Val73Leu), gnomAD 17-17793165-G-C, REVEL 0.07, ESM-1b 0.00
- A74A (p.Ala74Ala), rs768129379, gnomAD 17-17793170-C-T, CADD 0.35
- A75S (p.Ala75Ser), rs566875015, ClinGen CA8418078, cosmic curated COSV55395, ClinVar RCV001615036, REVEL 0.01, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not provided
- A75T (p.Ala75Thr), rs566875015, ClinGen CA288366892, NCI-TCGA Cosmic COSV5539, cosmic curated COSV55395, REVEL 0.03, ESM-1b 0.00, Conflicting interpretations, not specified; not provided; RAI1-related disorder
- A75A (p.Ala75Ala), rs144981212, gnomAD 17-17793173-C-T, CADD 2.29
Public RAI1 analysis runs
- RAI1 analysis run — RAI1 (2,689 variants) — completed 2026-10-09