RLBP1 (Retinaldehyde-binding protein 1) variants and mutations
RLBP1 (also known as Retinaldehyde-binding protein 1) is a human protein-coding gene encoding a retinaldehyde-binding protein 1 protein. It binds 11-cis-retinoids in retinal pigment epithelium and Muller cells and supports regeneration and trafficking of visual-cycle chromophore. Biallelic pathogenic variants cause retinal dystrophies including Bothnia dystrophy, retinitis punctata albescens, and fundus albipunctatus-like disease. This analysis covers 682 RLBP1 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Bothnia retinal dystrophy, fundus albipunctatus, and Newfoundland cone-rod dystrophy. Example RLBP1 variants include M1?, M1L, and S2*.
Variant analysis overview
- Gene: RLBP1
- Protein: Retinaldehyde-binding protein 1
- UniProt accession: P12271
- Organism: Homo sapiens
- Variants analyzed: 682
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 417 unspecified-consequence records; 1 stop lost; 96 synonymous variants; 144 missense variants; 4 stop-gained variants; 10 frameshift variants; 7 splice-region variants; 2 in-frame deletions; 1 protein altering variant; 1 in-frame insertions
- Prediction scores: 580 variants have prediction scores (85% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Bothnia retinal dystrophy, fundus albipunctatus, Newfoundland cone-rod dystrophy, retinitis pigmentosa, retinitis punctata albescens, Retinal dystrophy, Joubert syndrome and related disorders, autosomal recessive retinitis pigmentosa, RLBP1-related retinopathy, Alpers syndrome, mitochondrial DNA depletion syndrome 4a, age-related macular degeneration.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 binding sites; 1 post-translational modification sites.
- Structural context: 386 variants have structural context.
- PTM context: 3 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, MaveDB, LitVar.
Notable RLBP1 variants
Examples include M1?, M1L, S2*, S2L, S2T, E3D, E3K, E3Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; high impact.
- M1L (p.Met1Leu), rs2051605586, ClinGen CA393731961, ClinVar RCV002049836, MetaLR 0.48, MetaSVM -0.02, Pathogenic, not provided
- S2* (p.Ser2Ter), rs1212807954, ClinGen CA393731952, ClinVar RCV003670367, gnomAD rs1212807954, CADD 36.00, Pathogenic
- S2L (p.Ser2Leu), gnomAD rs1212807954, REVEL 0.24, CADD 23.00, Pathogenic
- S2T (p.Ser2Thr), rs140569547, ClinGen CA7722427, ClinVar RCV001888818, ClinVar RCV005472974, REVEL 0.11, CADD 14.30, Uncertain significance, not provided; Inborn genetic diseases
- E3D (p.Glu3Asp), rs146844731, ClinGen CA7722426, ClinVar RCV000902680, ClinVar RCV001000383, REVEL 0.25, CADD 9.89, Conflicting interpretations, not specified; not provided
- E3K (p.Glu3Lys), NCI-TCGA Cosmic COSV5152, NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
- E3Q (p.Glu3Gln), NCI-TCGA Cosmic COSV5152, NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
- G4E (p.Gly4Glu), NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
- G4R (p.Gly4Arg), rs376705292, ClinGen CA7722425, ClinVar RCV001063345, 1000Genomes rs376705292, REVEL 0.31, CADD 14.50, Uncertain significance, not provided
- V5G (p.Val5Gly), Ensembl rs1596185411, REVEL 0.31, CADD 21.60
- V5M (p.Val5Met), TOPMed rs1463943553, gnomAD rs1463943553, REVEL 0.28, CADD 23.50
- G6D (p.Gly6Asp), gnomAD rs1170700714, REVEL 0.51, CADD 23.30
- G6S (p.Gly6Ser), rs2505865278, ClinGen CA393731920, ClinVar RCV002999288, REVEL 0.45, CADD 24.80, Uncertain significance, not provided
- T7A (p.Thr7Ala), rs2505865262, ClinGen CA393731913, ClinVar RCV002957890, REVEL 0.27, CADD 22.10, Uncertain significance, not provided
- T7K (p.Thr7Lys), ESP rs143319904, ExAC rs143319904, TOPMed rs143319904, gnomAD rs143319904, REVEL 0.39, CADD 22.00, Uncertain significance
- T7M (p.Thr7Met), rs143319904, ClinGen CA7722407, ClinVar RCV001943159, ClinVar RCV003247148, REVEL 0.23, CADD 22.10, Uncertain significance, not provided; Inborn genetic diseases
- R9C (p.Arg9Cys), rs775252439, ClinGen CA7722406, ClinVar RCV000596579, ClinVar RCV002250668, REVEL 0.66, CADD 26.00, Conflicting interpretations, not provided; Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy
- R9H (p.Arg9His), rs201258558, ClinGen CA7722405, ClinVar RCV002041648, ESP rs201258558, REVEL 0.53, CADD 24.80, Uncertain significance, not provided
- R9L (p.Arg9Leu), rs201258558, ClinGen CA274536627, ClinVar RCV001361556, ESP rs201258558, REVEL 0.68, CADD 24.60, Uncertain significance, not provided
- M10I (p.Met10Ile), TOPMed rs913260526, gnomAD rs913260526, REVEL 0.21, CADD 15.70
- M10K (p.Met10Lys), rs77384282, ClinGen CA202707, ClinVar RCV000178076, ClinVar RCV000280535, REVEL 0.17, CADD 15.70, Conflicting interpretations, not specified; not provided; Retinitis pigmentosa
- M10L (p.Met10Leu), TOPMed rs1175301117, gnomAD rs1175301117, REVEL 0.17, CADD 0.49, Uncertain significance
- M10V (p.Met10Val), rs1175301117, ClinGen CA393731897, ClinVar RCV001900888, TOPMed rs1175301117, REVEL 0.16, CADD 0.12, Uncertain significance, not provided
- V11I (p.Val11Ile), rs772224977, ClinGen CA7722404, ClinVar RCV001360185, ExAC rs772224977, REVEL 0.24, CADD 16.00, Uncertain significance, not provided
- P12H (p.Pro12His), Ensembl rs2150971942
- P12S (p.Pro12Ser), Ensembl rs1390498593, REVEL 0.32, CADD 12.40
- E14D (p.Glu14Asp), rs1041040938, ClinGen CA393731866, ClinVar RCV003889692, TOPMed rs1041040938, REVEL 0.24, CADD 14.20, Uncertain significance, Retinal dystrophy
- E15* (p.Glu15Ter), gnomAD rs2051602326
- E17* (p.Glu17Ter), TOPMed rs867569502, gnomAD rs867569502, Uncertain significance
- E17D (p.Glu17Asp), TOPMed rs1433542598, REVEL 0.20, CADD 5.94, Likely benign
- E17K (p.Glu17Lys), rs867569502, ClinGen CA274536589, ClinVar RCV000728995, TOPMed rs867569502, REVEL 0.18, CADD 19.70, Uncertain significance, not provided
- L18P (p.Leu18Pro), gnomAD rs1267346512, REVEL 0.59, CADD 28.60
- R19C (p.Arg19Cys), rs369127471, ClinGen CA274536587, ClinVar RCV003889691, ESP rs369127471, REVEL 0.54, CADD 28.10, Uncertain significance, Retinal dystrophy
- R19H (p.Arg19His), rs375609386, ClinGen CA274536585, ClinVar RCV001313541, ESP rs375609386, REVEL 0.36, AlphaMissense 0.41, Uncertain significance, not provided
- R19L (p.Arg19Leu), rs375609386, ClinGen CA393731833, ClinVar RCV002010909, ESP rs375609386, AlphaMissense 0.41, MetaLR 0.68, Uncertain significance, not provided
- A20D (p.Ala20Asp), rs774472430, ClinGen CA393731829, ClinVar RCV001346182, ExAC rs774472430, AlphaMissense 0.17, MetaLR 0.54, Uncertain significance, not provided
- A20V (p.Ala20Val), ExAC rs774472430, TOPMed rs774472430, gnomAD rs774472430, REVEL 0.24, AlphaMissense 0.17, Uncertain significance, Inborn genetic diseases
- Q21* (p.Gln21Ter), rs2505865153, ClinGen CA393731825, ClinVar RCV003704497, Pathogenic
- L22V (p.Leu22Val), 1000Genomes rs541532100, ExAC rs541532100, gnomAD rs541532100, REVEL 0.44, CADD 19.40, Uncertain significance, Inborn genetic diseases
- E23Q (p.Glu23Gln), gnomAD rs1378186357, REVEL 0.36, CADD 22.80
- Q24H (p.Gln24His), rs2505865129, ClinGen CA393731800, ClinVar RCV002302998, Uncertain significance, not provided
- L25F (p.Leu25Phe), ExAC rs749519675, TOPMed rs749519675, gnomAD rs749519675, REVEL 0.41, AlphaMissense 0.25, Uncertain significance
- L25V (p.Leu25Val), rs749519675, ClinGen CA7722400, ClinVar RCV001362539, ExAC rs749519675, AlphaMissense 0.25, MetaLR 0.76, Uncertain significance, not provided
- T26S (p.Thr26Ser), Ensembl rs2051601865, REVEL 0.40, CADD 22.10
- T27A (p.Thr27Ala), rs974591388, ClinGen CA274536568, ClinVar RCV001995609, Ensembl rs974591388, REVEL 0.26, CADD 16.10, Uncertain significance, not provided
- K28N (p.Lys28Asn), NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
- H30Q (p.His30Gln), rs746395372, ExAC rs746395372, TOPMed rs746395372, gnomAD rs746395372, REVEL 0.41, CADD 11.50, Likely benign
- H30Y (p.His30Tyr), gnomAD rs1362870883, REVEL 0.47, CADD 26.40
- G31R (p.Gly31Arg), NCI-TCGA Cosmic COSV5152, Ensembl rs2051601582, Variant assessed as somatic; moderate impact.
- P36A (p.Pro36Ala), 1000Genomes rs544204108, ExAC rs544204108, TOPMed rs544204108, gnomAD rs544204108, REVEL 0.15, CADD 17.50, Uncertain significance, Inborn genetic diseases
- P36L (p.Pro36Leu), rs200143313, ClinGen CA10647445, ClinVar RCV000276867, ClinVar RCV000326172, REVEL 0.15, CADD 0.42, Uncertain significance, Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentary retinal dystro
- P36Q (p.Pro36Gln), ESP rs200143313, TOPMed rs200143313, gnomAD rs200143313, REVEL 0.18, CADD 0.13, Uncertain significance
- C37Y (p.Cys37Tyr), TOPMed rs2051601318
- Q39H (p.Gln39His), rs2051601227, ClinGen CA393731703, ClinVar RCV001978622, Ensembl rs2051601227, AlphaMissense 0.10, MetaLR 0.35, Uncertain significance, not provided
- Q39K (p.Gln39Lys), Ensembl rs950374629, REVEL 0.17, CADD 12.50, Uncertain significance, Retinal dystrophy
- Q39P (p.Gln39Pro), ExAC rs758111666, gnomAD rs758111666, REVEL 0.24, CADD 21.10
- R42C (p.Arg42Cys), rs765041521, ClinGen CA7722390, NCI-TCGA Cosmic COSV5152, ClinVar RCV001054252, REVEL 0.30, CADD 23.70, Uncertain significance, not provided
- R42H (p.Arg42His), rs142495448, ClinGen CA7722389, ClinVar RCV001925486, 1000Genomes rs142495448, REVEL 0.21, CADD 16.70, Uncertain significance, not provided
- K47T (p.Lys47Thr), rs2505864978, ClinGen CA393731655, ClinVar RCV002806361, Uncertain significance, not provided
- K49E (p.Lys49Glu), ExAC rs778578924, gnomAD rs778578924
- K49N (p.Lys49Asn), NCI-TCGA Cosmic COSV9917, REVEL 0.57, CADD 25.00, Variant assessed as somatic; moderate impact.
- D50G (p.Asp50Gly), ExAC rs754605689, gnomAD rs754605689, REVEL 0.69, CADD 31.00
- D50Y (p.Asp50Tyr), rs2150971366, ClinGen CA393731302, NCI-TCGA Cosmic COSV5152, ClinVar RCV001867706, AlphaMissense 0.48, MetaLR 0.82, Uncertain significance, not provided
- N53K (p.Asn53Lys), rs1173055601, ClinGen CA393731237, ClinVar RCV003015081, TOPMed rs1173055601, REVEL 0.50, CADD 6.89, Uncertain significance, not provided
- E54K (p.Glu54Lys), rs1475069366, NCI-TCGA Cosmic COSV5152, 1000Genomes rs1475069366, TOPMed rs1475069366, REVEL 0.80, CADD 26.50, Uncertain significance, Pigmentary retinal dystrophy
- E54Q (p.Glu54Gln), 1000Genomes rs1475069366, TOPMed rs1475069366, gnomAD rs1475069366, REVEL 0.72, CADD 25.40
- R55T (p.Arg55Thr), TOPMed rs1342305900
- E56K (p.Glu56Lys), gnomAD rs2051590505, REVEL 0.37, CADD 22.10
- E56V (p.Glu56Val), rs540203768, ClinGen CA7722369, ClinVar RCV001883531, ClinVar RCV002552277, REVEL 0.39, CADD 21.30, Uncertain significance, Inborn genetic diseases; not provided
- E57Q (p.Glu57Gln), gnomAD rs2051590420, REVEL 0.49, CADD 25.80
- E57V (p.Glu57Val), gnomAD rs1478235325, REVEL 0.82, CADD 32.00
- R59Q (p.Arg59Gln), rs201370327, ClinGen CA7722368, ClinVar RCV001999402, ClinVar RCV002657641, REVEL 0.53, CADD 25.80, Uncertain significance, Inborn genetic diseases; not provided
- R59W (p.Arg59Trp), NCI-TCGA Cosmic COSV9917, Ensembl rs2051590363, Variant assessed as somatic; moderate impact.
- E60D (p.Glu60Asp), rs191170653, ClinGen CA7722365, ClinVar RCV001062313, 1000Genomes rs191170653, REVEL 0.15, CADD 3.63, Likely benign, not provided
- E60K (p.Glu60Lys), ExAC rs760538477, TOPMed rs760538477, gnomAD rs760538477, REVEL 0.32, CADD 17.80
- E60Q (p.Glu60Gln), ExAC rs760538477, TOPMed rs760538477, gnomAD rs760538477, REVEL 0.28, CADD 15.80
- E61K (p.Glu61Lys), rs1567123991, Ensembl rs1567123991, REVEL 0.17, CADD 17.40, Variant assessed as somatic; moderate impact.
- A62T (p.Ala62Thr), rs1279832933, ClinGen CA393731091, ClinVar RCV002701464, ClinVar RCV004656967, REVEL 0.36, CADD 21.50, Uncertain significance, not specified; not provided; Inborn genetic diseases
- A62V (p.Ala62Val), rs144641995, ClinGen CA7722364, ClinVar RCV001914858, ClinVar RCV003164265, REVEL 0.37, CADD 6.71, Conflicting interpretations, Inborn genetic diseases; not provided
- V63G (p.Val63Gly), TOPMed rs1219949432, gnomAD rs1219949432, REVEL 0.84, CADD 25.80
- V63M (p.Val63Met), gnomAD rs1275715061
- R64* (p.Arg64Ter), rs561618945, ClinGen CA393731059, NCI-TCGA Cosmic COSV5152, ClinVar RCV001073561, AlphaMissense 0.09, MetaLR 0.47, Pathogenic
- R64G (p.Arg64Gly), 1000Genomes rs561618945, ExAC rs561618945, TOPMed rs561618945, gnomAD rs561618945, REVEL 0.36, AlphaMissense 0.09, Pathogenic
- R64Q (p.Arg64Gln), rs201865787, ClinGen CA7722362, ClinVar RCV000265453, ClinVar RCV000305613, REVEL 0.26, CADD 14.50, Conflicting interpretations, not provided; Newfoundland cone-rod dystrophy; Retinitis pigmentosa
- E65A (p.Glu65Ala), ExAC rs776927343, TOPMed rs776927343, gnomAD rs776927343, REVEL 0.25, CADD 20.60
- E65Q (p.Glu65Gln), ExAC rs759789501, gnomAD rs759789501, REVEL 0.33, CADD 19.90
- L66V (p.Leu66Val), gnomAD rs1409257075, REVEL 0.75, CADD 23.70
- Q67* (p.Gln67Ter), Ensembl rs2051589773, CADD 38.00
- Q67H (p.Gln67His), Ensembl rs2051589731
- Q67K (p.Gln67Lys), NCI-TCGA Cosmic COSV5152, Variant assessed as somatic; moderate impact.
- Q67R (p.Gln67Arg), Ensembl rs2051589755, REVEL 0.15, CADD 11.60
- E68* (p.Glu68Ter), rs1596184582, ClinGen CA393731000, ClinVar RCV001956109, Ensembl rs1596184582, AlphaMissense 0.08, MetaLR 0.52, Pathogenic
- E68D (p.Glu68Asp), rs1394251687, ClinGen CA393730989, ClinVar RCV004454070, TOPMed rs1394251687, REVEL 0.24, CADD 12.50, Uncertain significance, Inborn genetic diseases
- E68K (p.Glu68Lys), rs1596184582, ClinGen CA393731004, ClinVar RCV001894587, Ensembl rs1596184582, REVEL 0.31, AlphaMissense 0.08, Uncertain significance, not provided
- M69I (p.Met69Ile), gnomAD rs2051589605, REVEL 0.23, CADD 19.70
- M69T (p.Met69Thr), rs747494175, ClinGen CA7722358, ClinVar RCV001954505, ExAC rs747494175, REVEL 0.39, CADD 23.40, Uncertain significance, not provided
- M69V (p.Met69Val), TOPMed rs1210634887, REVEL 0.30, CADD 19.30
- Q71* (p.Gln71Ter), gnomAD rs1466199639, CADD 37.00
- Q71R (p.Gln71Arg), rs913607874, ClinGen CA274535594, ClinVar RCV001342516, ClinVar RCV004815407, REVEL 0.27, CADD 8.56, Uncertain significance, not provided
- A72E (p.Ala72Glu), ExAC rs772539351, TOPMed rs772539351, gnomAD rs772539351, REVEL 0.20, CADD 2.48, Likely benign
- A72V (p.Ala72Val), rs772539351, ClinGen CA7722356, ClinVar RCV001364448, ClinVar RCV005271208, REVEL 0.16, CADD 8.28, Conflicting interpretations, not provided; Inborn genetic diseases
- Q73* (p.Gln73Ter), Ensembl rs2150971301, CADD 36.00
- A74T (p.Ala74Thr), rs1195086138, TOPMed rs1195086138, gnomAD rs1195086138, REVEL 0.48, CADD 23.00, Variant assessed as somatic; moderate impact.
- A74V (p.Ala74Val), rs1238365040, ClinGen CA393730899, NCI-TCGA Cosmic COSV5152, ClinVar RCV001297296, REVEL 0.53, CADD 23.30, Uncertain significance, not provided; Retinal dystrophy
- A75P (p.Ala75Pro), gnomAD rs1188095325
- S76* (p.Ser76Ter), 1000Genomes rs149742128, ESP rs149742128, ExAC rs149742128, TOPMed rs149742128, CADD 35.00, Uncertain significance
- S76L (p.Ser76Leu), rs149742128, ClinGen CA7722352, ClinVar RCV001057407, 1000Genomes rs149742128, REVEL 0.21, CADD 17.00, Uncertain significance, not provided
- S76P (p.Ser76Pro), ExAC rs778384712, gnomAD rs778384712, REVEL 0.16, CADD 10.30
- S76T (p.Ser76Thr), ExAC rs778384712, gnomAD rs778384712, REVEL 0.12, CADD 4.39
- G77A (p.Gly77Ala), ExAC rs750355323, TOPMed rs750355323, gnomAD rs750355323, REVEL 0.41, CADD 22.90
- G77E (p.Gly77Glu), rs750355323, NCI-TCGA Cosmic COSV5152, ExAC rs750355323, TOPMed rs750355323, REVEL 0.40, CADD 23.10, Uncertain significance, Inborn genetic diseases
- G77R (p.Gly77Arg), rs755885208, ExAC rs755885208, TOPMed rs755885208, gnomAD rs755885208, REVEL 0.40, CADD 24.60, Uncertain significance, not provided; Retinal dystrophy
- G77W (p.Gly77Trp), ExAC rs755885208, TOPMed rs755885208, gnomAD rs755885208, REVEL 0.51, CADD 25.30, Uncertain significance, Inborn genetic diseases
- E78G (p.Glu78Gly), TOPMed rs1362293535
- E78K (p.Glu78Lys), NCI-TCGA Cosmic COSV5152, REVEL 0.20, CADD 20.30, Variant assessed as somatic; moderate impact.
- E78V (p.Glu78Val), TOPMed rs1362293535
- L80Q (p.Leu80Gln), Ensembl rs2051588883
- L80V (p.Leu80Val), rs1380923865, ClinGen CA393730869, ClinVar RCV001233372, TOPMed rs1380923865, REVEL 0.14, CADD 16.90, Uncertain significance, not provided
- A81E (p.Ala81Glu), ExAC rs767601073, TOPMed rs767601073, gnomAD rs767601073, REVEL 0.36, CADD 23.30, Uncertain significance, Inborn genetic diseases
- A81V (p.Ala81Val), ExAC rs767601073, TOPMed rs767601073, gnomAD rs767601073, REVEL 0.29, CADD 24.40
- V82G (p.Val82Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V82M (p.Val82Met), Ensembl rs866647763
- V84A (p.Val84Ala), ExAC rs765401087, TOPMed rs765401087, gnomAD rs765401087
- V84E (p.Val84Glu), ExAC rs765401087, TOPMed rs765401087, gnomAD rs765401087, REVEL 0.65, CADD 25.20
- V84G (p.Val84Gly), ExAC rs765401087, TOPMed rs765401087, gnomAD rs765401087, REVEL 0.78, CADD 25.50
- V84M (p.Val84Met), rs761816415, ClinGen CA7722347, NCI-TCGA Cosmic COSV9917, ClinVar RCV002590645, REVEL 0.48, CADD 24.40, Uncertain significance, not provided
- A85E (p.Ala85Glu), TOPMed rs1393804387, gnomAD rs1393804387, REVEL 0.41, CADD 16.80
- A85T (p.Ala85Thr), TOPMed rs1447479751, gnomAD rs1447479751, REVEL 0.32, CADD 18.20, Uncertain significance, Inborn genetic diseases
- A85V (p.Ala85Val), rs1393804387, NCI-TCGA Cosmic COSV5152, TOPMed rs1393804387, gnomAD rs1393804387, REVEL 0.41, CADD 20.20, Variant assessed as somatic; moderate impact.
- E86* (p.Glu86Ter), Ensembl rs2051588463, CADD 36.00
- R87G (p.Arg87Gly), gnomAD rs1407254289, REVEL 0.35, CADD 22.90
- R87W (p.Arg87Trp), rs1407254289, ClinGen CA393730831, ClinVar RCV003889690, REVEL 0.59, CADD 24.80, Uncertain significance, Retinal dystrophy
- V88E (p.Val88Glu), Ensembl rs2051588338
- V88G (p.Val88Gly), Ensembl rs2051588338
- V88L (p.Val88Leu), Ensembl rs2051588368
- Q89P (p.Gln89Pro), ExAC rs761142951, TOPMed rs761142951, gnomAD rs761142951, REVEL 0.32, CADD 4.28
- Q89R (p.Gln89Arg), ExAC rs761142951, TOPMed rs761142951, gnomAD rs761142951, REVEL 0.18, CADD 1.15
- E90D (p.Glu90Asp), TOPMed rs2051588216, REVEL 0.28, CADD 0.00, Likely benign
- E90G (p.Glu90Gly), rs976229803, ClinGen CA274535520, ClinVar RCV002042682, ClinVar RCV006368066, REVEL 0.14, CADD 7.71, Conflicting interpretations, Inborn genetic diseases; not provided
- D92G (p.Asp92Gly), rs2150971220, ClinGen CA393730793, ClinVar RCV001916292, Ensembl rs2150971220, AlphaMissense 0.09, MetaLR 0.63, Uncertain significance, not provided
- D92H (p.Asp92His), Ensembl rs1567123888, REVEL 0.70, CADD 24.10, Uncertain significance, Inborn genetic diseases
- S93C (p.Ser93Cys), ESP rs369763591, ExAC rs369763591, TOPMed rs369763591, gnomAD rs369763591, REVEL 0.43, CADD 23.50, Uncertain significance
- S93G (p.Ser93Gly), rs369763591, ClinGen CA7722338, ClinVar RCV001238384, ESP rs369763591, REVEL 0.29, CADD 21.60, Uncertain significance, not provided
- S93N (p.Ser93Asn), ExAC rs748652735, gnomAD rs748652735, REVEL 0.24, CADD 4.61
- S93R (p.Ser93Arg), rs985098836, ClinGen CA274535495, ClinVar RCV002627334, Ensembl rs985098836, REVEL 0.46, CADD 10.10, Uncertain significance, not provided
- S93T (p.Ser93Thr), ExAC rs748652735, gnomAD rs748652735
- G94D (p.Gly94Asp), rs201248180, ClinGen CA274535487, ClinVar RCV001979257, ClinVar RCV002571182, REVEL 0.18, CADD 14.30, Uncertain significance, Inborn genetic diseases; not provided
- G94R (p.Gly94Arg), ExAC rs773859532, TOPMed rs773859532, gnomAD rs773859532, REVEL 0.28, CADD 16.70
- G94S (p.Gly94Ser), ExAC rs773859532, TOPMed rs773859532, gnomAD rs773859532, REVEL 0.17, CADD 10.10
- F95C (p.Phe95Cys), Ensembl rs2051587775
- F95L (p.Phe95Leu), ExAC rs768158302, TOPMed rs768158302
- F95V (p.Phe95Val), ExAC rs768158302, TOPMed rs768158302, REVEL 0.65, CADD 23.20
- F96L (p.Phe96Leu), Ensembl rs2150971196, NCI-TCGA Cosmic COSV5152, REVEL 0.18, CADD 14.30, Variant assessed as somatic; moderate impact.
- L97Q (p.Leu97Gln), rs761221207, ClinGen CA7722332, ClinVar RCV002597789, ClinVar RCV005266303, REVEL 0.91, CADD 27.10, Uncertain significance, not provided; Inborn genetic diseases
- R98C (p.Arg98Cys), rs755688433, ClinVar RCV004557920, REVEL 0.96, CADD 31.00, Likely benign, EBV-positive nodal T- and NK-cell lymphoma
- R98H (p.Arg98His), rs745721289, ClinGen CA7722330, ClinVar RCV001305325, ExAC rs745721289, REVEL 0.96, CADD 27.90, Uncertain significance, not provided
- R98P (p.Arg98Pro), ExAC rs745721289, TOPMed rs745721289, gnomAD rs745721289, REVEL 0.97, CADD 28.70, Uncertain significance
- R98S (p.Arg98Ser), ExAC rs755688433, gnomAD rs755688433, REVEL 0.94, CADD 26.90
- F99L (p.Phe99Leu), ExAC rs781119350, gnomAD rs781119350, NCI-TCGA Cosmic COSV5152, Variant assessed as somatic; moderate impact.
- I100M (p.Ile100Met), TOPMed rs972531990, gnomAD rs972531990, REVEL 0.57, CADD 24.20, Likely benign
- I100V (p.Ile100Val), TOPMed rs1485138355, gnomAD rs1485138355, REVEL 0.33, CADD 22.30
- R101C (p.Arg101Cys), TOPMed rs1370201404, gnomAD rs1370201404, REVEL 0.96, CADD 31.00
- R101H (p.Arg101His), NCI-TCGA Cosmic COSV5152, REVEL 0.90, CADD 27.20, Variant assessed as somatic; moderate impact.
- R101S (p.Arg101Ser), TOPMed rs1370201404, gnomAD rs1370201404, REVEL 0.96, CADD 27.50
- A102G (p.Ala102Gly), rs2051587319, ClinGen CA393730736, ClinVar RCV001887162, TOPMed rs2051587319, REVEL 0.83, CADD 26.60, Uncertain significance, not provided
- A102P (p.Ala102Pro), rs143121722, ClinGen CA10636615, ClinVar RCV000288924, ClinVar RCV000350928, REVEL 0.85, CADD 25.80, Uncertain significance, Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentary retinal dystro
- A102S (p.Ala102Ser), ESP rs143121722, ExAC rs143121722, TOPMed rs143121722, gnomAD rs143121722, REVEL 0.83, CADD 24.90, Uncertain significance
- A102T (p.Ala102Thr), rs143121722, ClinGen CA7722328, ClinVar RCV001066913, ClinVar RCV005394717, REVEL 0.83, CADD 23.90, Uncertain significance, Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal d
- R103Q (p.Arg103Gln), rs1422832116, ClinGen CA393730733, ClinVar RCV001340430, TOPMed rs1422832116, REVEL 0.74, CADD 26.00, Uncertain significance, not provided
- R103W (p.Arg103Trp), rs200725857, ESP rs200725857, ExAC rs200725857, TOPMed rs200725857, REVEL 0.79, CADD 25.10, Variant assessed as somatic; moderate impact.
- K104R (p.Lys104Arg), rs753830559, ClinGen CA7722325, ClinVar RCV002297183, ExAC rs753830559, REVEL 0.80, CADD 27.40, Uncertain significance, not provided
- N106S (p.Asn106Ser), rs905070285, ClinGen CA274535421, ClinVar RCV001243220, TOPMed rs905070285, REVEL 0.24, CADD 23.40, Uncertain significance, not provided
- V107L (p.Val107Leu), TOPMed rs1454165180, gnomAD rs1454165180
- V107M (p.Val107Met), TOPMed rs1454165180, gnomAD rs1454165180, REVEL 0.65, CADD 23.80
- R109G (p.Arg109Gly), NCI-TCGA Cosmic COSV5152, Variant assessed as somatic; moderate impact.
- R109L (p.Arg109Leu), gnomAD rs1423697485
- A110S (p.Ala110Ser), TOPMed rs2051586963
- A110V (p.Ala110Val), gnomAD rs1193488428, REVEL 0.93, CADD 29.90
- Y111* (p.Tyr111Ter), rs766675673, ClinGen CA7722324, ClinVar RCV001075338, ClinVar RCV001387786, CADD 36.00, Pathogenic
Public RLBP1 analysis runs
- RLBP1 analysis run — RLBP1 (682 variants) — completed 2026-08-22