RRAD (GTP-binding protein RAD) variants and mutations
RRAD (also known as GTP-binding protein RAD) is a human protein-coding gene encoding a GTP-binding protein RAD protein. It is a small GTP-binding protein that regulates voltage-gated L-type calcium channels and calcium-dependent signaling in heart muscle. By influencing channel activity and trafficking, it helps tune calcium entry, cardiac contractility, and responses to adrenergic stimulation. This analysis covers 672 RRAD variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes neoplasm, hepatocellular carcinoma, and lung carcinoma. Example RRAD variants include L3V, G5D, and G6S.
Variant analysis overview
- Gene: RRAD
- Protein: GTP-binding protein RAD
- UniProt accession: P55042
- Organism: Homo sapiens
- Variants analyzed: 672
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 387 unspecified-consequence records; 1 incomplete terminal codon variant; 66 synonymous variants; 189 missense variants; 16 stop-gained variants; 27 frameshift variants; 2 protein altering variant; 1 in-frame insertions; 1 stop lost; 3 in-frame deletions; 1 splice-region variants; 1 substitution
- Prediction scores: 675 variants have prediction scores (100% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neoplasm, hepatocellular carcinoma, lung carcinoma, lung cancer, Brugada syndrome, oral cavity squamous cell carcinoma, pancreatic neoplasm, familial pancreatic carcinoma, colorectal carcinoma, catecholaminergic polymorphic ventricular tachycardia, gastric cancer, familial isolated dilated cardiomyopathy.
Protein structure and variant hotspots
- Protein features: 2 binding sites; 2 post-translational modification sites.
- PTM context: 5 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 RRAD variants
Examples include L3V, G5D, G6S, G6V, G7D, S8G, S8R, A10T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- L3V (p.Leu3Val), TOPMed rs1296592967, ESM-1b 0.00, AlphaMissense 0.08
- G5D (p.Gly5Asp), gnomAD rs1232495202, REVEL 0.06, ESM-1b 0.57
- G6S (p.Gly6Ser), Ensembl rs867365586, REVEL 0.09, ESM-1b 0.00
- G6V (p.Gly6Val), TOPMed rs927065377, gnomAD rs927065377, REVEL 0.33, ESM-1b 0.00
- G7D (p.Gly7Asp), gnomAD rs1346049126, REVEL 0.05, ESM-1b 0.28
- S8G (p.Ser8Gly), rs2544134892, ClinGen CA396245744, ClinVar RCV004123914, REVEL 0.03, ESM-1b 0.00, Uncertain significance, not specified
- S8R (p.Ser8Arg), gnomAD rs1305059714, REVEL 0.03, ESM-1b 0.00
- A10T (p.Ala10Thr), TOPMed rs1962980412, gnomAD rs1962980412, REVEL 0.07, ESM-1b 0.00
- A10V (p.Ala10Val), gnomAD rs1408039378, REVEL 0.09, ESM-1b 0.00
- G11A (p.Gly11Ala), 1000Genomes rs777868365, ExAC rs777868365, TOPMed rs777868365, gnomAD rs777868365, REVEL 0.08, ESM-1b 0.00
- G12A (p.Gly12Ala), rs758327096, ClinGen CA8098094, ClinVar RCV004099577, ExAC rs758327096, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not specified
- G12R (p.Gly12Arg), TOPMed rs1962980194, gnomAD rs1962980194, REVEL 0.28, ESM-1b 0.00
- S13T (p.Ser13Thr), Ensembl rs113677442, REVEL 0.06, ESM-1b 0.00
- R14G (p.Arg14Gly), rs931159110, ClinGen CA282271060, ClinVar RCV004452243, TOPMed rs931159110, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not specified
- G15C (p.Gly15Cys), Ensembl rs1962979732, REVEL 0.11, ESM-1b 0.77
- G16R (p.Gly16Arg), TOPMed rs1054800829, gnomAD rs1054800829, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not specified
- G17C (p.Gly17Cys), TOPMed rs1400562666, gnomAD rs1400562666, REVEL 0.19, ESM-1b 0.83
- G17S (p.Gly17Ser), TOPMed rs1400562666, gnomAD rs1400562666, REVEL 0.08, ESM-1b 0.00
- G17V (p.Gly17Val), TOPMed rs1000102227, REVEL 0.11, ESM-1b 0.00
- G17A (p.Gly17Ala), NCI-TCGA TCGA novel, MetaLR 0.09, MetaSVM -1.05, Variant assessed as somatic; moderate impact.
- E19G (p.Glu19Gly), Ensembl rs2145486500, REVEL 0.10, ESM-1b 0.00
- R20G (p.Arg20Gly), TOPMed rs1049543710, REVEL 0.10, ESM-1b 0.00
- R20S (p.Arg20Ser), TOPMed rs1049543710, REVEL 0.16, ESM-1b 0.00
- E21K (p.Glu21Lys), gnomAD rs1218895180, REVEL 0.07, ESM-1b 0.00
- R22H (p.Arg22His), gnomAD rs1962978874, REVEL 0.06, ESM-1b 0.67
- R22L (p.Arg22Leu), gnomAD rs1962978874, REVEL 0.09, ESM-1b 0.15
- R23C (p.Arg23Cys), Ensembl rs1596995072, REVEL 0.26, ESM-1b 1.00
- R23G (p.Arg23Gly), Ensembl rs1596995072, REVEL 0.33, ESM-1b 0.00
- R23S (p.Arg23Ser), Ensembl rs1596995072, REVEL 0.25, ESM-1b 0.00
- R24P (p.Arg24Pro), TOPMed rs933784793, REVEL 0.40, ESM-1b 0.06
- R24Q (p.Arg24Gln), TOPMed rs933784793, REVEL 0.22, ESM-1b 0.60
- R24W (p.Arg24Trp), TOPMed rs943979474, gnomAD rs943979474, REVEL 0.38, ESM-1b 1.00
- G25A (p.Gly25Ala), TOPMed rs922361915, gnomAD rs922361915, REVEL 0.08, ESM-1b 0.00
- G25D (p.Gly25Asp), TOPMed rs922361915, gnomAD rs922361915, REVEL 0.21, ESM-1b 0.00
- G25V (p.Gly25Val), TOPMed rs922361915, gnomAD rs922361915, REVEL 0.21, ESM-1b 0.00
- S26R (p.Ser26Arg), TOPMed rs1470245182, gnomAD rs1470245182, REVEL 0.34, ESM-1b 0.00
- S26T (p.Ser26Thr), TOPMed rs1350403434, gnomAD rs1350403434, REVEL 0.22, ESM-1b 0.00
- T27I (p.Thr27Ile), Ensembl rs1596995041, REVEL 0.09, ESM-1b 0.00
- T27P (p.Thr27Pro), TOPMed rs1386146008, gnomAD rs1386146008, REVEL 0.21, ESM-1b 0.00
- P28L (p.Pro28Leu), TOPMed rs1962978145, REVEL 0.18, ESM-1b 0.00
- W29C (p.Trp29Cys), TOPMed rs1962978106, REVEL 0.12, ESM-1b 0.00
- G30A (p.Gly30Ala), gnomAD rs1309228714, REVEL 0.09, ESM-1b 0.00
- G30D (p.Gly30Asp), gnomAD rs1309228714, REVEL 0.06, ESM-1b 0.00
- P31R (p.Pro31Arg), Ensembl rs1567541774, REVEL 0.07, ESM-1b 0.00
- P31S (p.Pro31Ser), gnomAD rs1962977981, REVEL 0.08, ESM-1b 0.00
- A32P (p.Ala32Pro), TOPMed rs1001060859, gnomAD rs1001060859, REVEL 0.07, ESM-1b 0.00, Uncertain significance
- A32T (p.Ala32Thr), TOPMed rs1001060859, gnomAD rs1001060859, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not specified
- A32V (p.Ala32Val), gnomAD rs1355811724, REVEL 0.09, ESM-1b 0.00
- P33L (p.Pro33Leu), Ensembl rs1962977772, REVEL 0.07, ESM-1b 0.00
- P34Q (p.Pro34Gln), TOPMed rs1432031314, gnomAD rs1432031314, REVEL 0.05, ESM-1b 0.00
- L35P (p.Leu35Pro), TOPMed rs1962977575, REVEL 0.23, ESM-1b 0.00
- L35Q (p.Leu35Gln), TOPMed rs1962977575, REVEL 0.26, ESM-1b 0.00
- H36P (p.His36Pro), Ensembl rs2145486408, REVEL 0.26, ESM-1b 0.00
- H36Q (p.His36Gln), TOPMed rs909531301, gnomAD rs909531301, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not specified
- R37S (p.Arg37Ser), TOPMed rs1962977410, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not specified
- R38C (p.Arg38Cys), cosmic curated COSV10962, TOPMed rs1267935196, gnomAD rs1267935196, REVEL 0.29, ESM-1b 1.00
- R38G (p.Arg38Gly), TOPMed rs1267935196, gnomAD rs1267935196, REVEL 0.27, ESM-1b 0.14
- R38H (p.Arg38His), TOPMed rs1485114848, gnomAD rs1485114848, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not specified
- M40I (p.Met40Ile), rs764978814, ClinGen CA8098092, ClinVar RCV004194890, ExAC rs764978814, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not specified
- P41Q (p.Pro41Gln), TOPMed rs979557063, gnomAD rs979557063, REVEL 0.27, ESM-1b 0.00
- P41R (p.Pro41Arg), TOPMed rs979557063, gnomAD rs979557063, REVEL 0.42, ESM-1b 0.00
- P41S (p.Pro41Ser), Ensembl rs1596994981, REVEL 0.22, ESM-1b 0.00
- V42L (p.Val42Leu), 1000Genomes rs1471291692, TOPMed rs1471291692, gnomAD rs1471291692, REVEL 0.19, ESM-1b 0.00
- V42M (p.Val42Met), 1000Genomes rs1471291692, TOPMed rs1471291692, gnomAD rs1471291692, REVEL 0.26, ESM-1b 0.00
- D43E (p.Asp43Glu), gnomAD rs1250407135, REVEL 0.26, ESM-1b 0.00
- D43N (p.Asp43Asn), TOPMed rs1480747531, REVEL 0.17, ESM-1b 0.00
- E44* (p.Glu44Ter), TOPMed rs927491505, gnomAD rs927491505, CADD 38.00
- R45S (p.Arg45Ser), gnomAD rs1962976685, REVEL 0.23, ESM-1b 0.00
- D46G (p.Asp46Gly), gnomAD rs1962976523, REVEL 0.16, ESM-1b 0.00
- D46Y (p.Asp46Tyr), TOPMed rs980269575, gnomAD rs980269575, REVEL 0.20, ESM-1b 0.00
- L47Q (p.Leu47Gln), ExAC rs569186578, TOPMed rs569186578, gnomAD rs569186578, REVEL 0.28, ESM-1b 0.00
- Q48* (p.Gln48Ter), TOPMed rs1013825037, CADD 38.00
- A50V (p.Ala50Val), Ensembl rs2145486339, REVEL 0.09, ESM-1b 0.00
- L51P (p.Leu51Pro), 1000Genomes rs538436179, TOPMed rs538436179, gnomAD rs538436179, REVEL 0.23, ESM-1b 0.00
- T52A (p.Thr52Ala), Ensembl rs2145486333, REVEL 0.12, ESM-1b 0.00
- T52I (p.Thr52Ile), rs1962976216, ClinGen CA396245291, ClinVar RCV004147513, TOPMed rs1962976216, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not specified
- P53L (p.Pro53Leu), TOPMed rs1226479392, gnomAD rs1226479392, REVEL 0.13, ESM-1b 0.00
- G54A (p.Gly54Ala), NCI-TCGA TCGA novel, MetaLR 0.32, MetaSVM -0.48, Variant assessed as somatic; moderate impact.
- G54R (p.Gly54Arg), ExAC rs767682595, TOPMed rs767682595, gnomAD rs767682595, REVEL 0.09, ESM-1b 0.00
- G54S (p.Gly54Ser), ExAC rs767682595, TOPMed rs767682595, gnomAD rs767682595, REVEL 0.10, ESM-1b 0.00
- A55D (p.Ala55Asp), rs1010302141, ClinGen CA282270843, ClinVar RCV004189369, TOPMed rs1010302141, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not specified
- A55S (p.Ala55Ser), TOPMed rs1035295744, gnomAD rs1035295744, REVEL 0.04, ESM-1b 0.00, Likely benign, not specified
- T57A (p.Thr57Ala), Ensembl rs2145486303, REVEL 0.03, ESM-1b 0.00
- A58E (p.Ala58Glu), TOPMed rs1962975817, REVEL 0.05, ESM-1b 0.09
- A59V (p.Ala59Val), gnomAD rs1157664191, REVEL 0.11, ESM-1b 0.00
- A60T (p.Ala60Thr), TOPMed rs1261666466, REVEL 0.10, ESM-1b 0.00
- A60V (p.Ala60Val), TOPMed rs1457172808, gnomAD rs1457172808, REVEL 0.10, ESM-1b 0.00
- A61P (p.Ala61Pro), ExAC rs761881979, TOPMed rs761881979, gnomAD rs761881979, REVEL 0.06, ESM-1b 0.00
- A61S (p.Ala61Ser), ExAC rs761881979, TOPMed rs761881979, gnomAD rs761881979, REVEL 0.07, ESM-1b 0.00
- A61V (p.Ala61Val), TOPMed rs905587546, gnomAD rs905587546, REVEL 0.07, ESM-1b 0.00
- G62A (p.Gly62Ala), ExAC rs774353771, gnomAD rs774353771, REVEL 0.07, ESM-1b 0.00
- G62R (p.Gly62Arg), Ensembl rs1962975426, REVEL 0.03, ESM-1b 0.00
- T63P (p.Thr63Pro), gnomAD rs1182762996, REVEL 0.06, ESM-1b 0.00
- T63R (p.Thr63Arg), TOPMed rs1313000729, gnomAD rs1313000729, REVEL 0.09, ESM-1b 0.00
- T65A (p.Thr65Ala), Ensembl rs2145486240, REVEL 0.09, ESM-1b 0.00
- T65I (p.Thr65Ile), TOPMed rs1206786129, gnomAD rs1206786129, REVEL 0.07, ESM-1b 0.00
- Q66H (p.Gln66His), Ensembl rs1962974894, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not specified
- Q66P (p.Gln66Pro), rs7198458, UniProt VAR 049497, 1000Genomes rs7198458, ESP rs7198458, REVEL 0.11, ESM-1b 0.00
- G67S (p.Gly67Ser), 1000Genomes rs776046305, ExAC rs776046305, gnomAD rs776046305, REVEL 0.06, ESM-1b 0.00
- P68L (p.Pro68Leu), Ensembl rs1567541698, REVEL 0.07, ESM-1b 0.00
- D71Y (p.Asp71Tyr), Ensembl rs1962974389, REVEL 0.18, ESM-1b 0.00
- W72R (p.Trp72Arg), gnomAD rs1453639020, REVEL 0.23, ESM-1b 0.00
- W72S (p.Trp72Ser), ExAC rs746198967, gnomAD rs746198967, REVEL 0.22, ESM-1b 0.00
- W72* (p.Trp72Ter), rs941533396, gnomAD 16-66921879-C-T, CADD 14.20
- P73T (p.Pro73Thr), gnomAD 16-66921913-G-T, ESM-1b 0.00, AlphaMissense 0.07
- E74D (p.Glu74Asp), rs1367652753, ClinGen CA396245024, ClinVar RCV004352037, TOPMed rs1367652753, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- D75G (p.Asp75Gly), TOPMed rs1049596379, gnomAD rs1049596379, REVEL 0.13, ESM-1b 0.00
- D75Y (p.Asp75Tyr), gnomAD rs1346259887, REVEL 0.11, ESM-1b 0.00
- S76P (p.Ser76Pro), TOPMed rs1165119242, gnomAD rs1165119242, REVEL 0.26, ESM-1b 0.01
- E77K (p.Glu77Lys), Ensembl rs997985313, REVEL 0.09, ESM-1b 1.00
- D78N (p.Asp78Asn), TOPMed rs1365759534, gnomAD rs1365759534, REVEL 0.13, ESM-1b 0.72
- D78V (p.Asp78Val), TOPMed rs1428545358, REVEL 0.14, ESM-1b 0.82
- L80P (p.Leu80Pro), ExAC rs776429078, TOPMed rs776429078, gnomAD rs776429078, REVEL 0.10, ESM-1b 0.00
- L80F (p.Leu80Phe), rs1261344781, gnomAD 16-66921901-G-A, ESM-1b 0.00, AlphaMissense 0.09
- L80I (p.Leu80Ile), rs1261344781, gnomAD 16-66921901-G-T, ESM-1b 0.00, AlphaMissense 0.09
- S81T (p.Ser81Thr), TOPMed rs1393625184, REVEL 0.05, ESM-1b 0.00
- S82L (p.Ser82Leu), TOPMed rs1340283524, gnomAD rs1340283524, REVEL 0.28, ESM-1b 0.00
- G83E (p.Gly83Glu), ExAC rs770649589, TOPMed rs770649589, gnomAD rs770649589, REVEL 0.04, ESM-1b 0.00
- G83R (p.Gly83Arg), gnomAD rs1244794083, REVEL 0.08, ESM-1b 0.30
- G84D (p.Gly84Asp), gnomAD rs1485519916, REVEL 0.09, ESM-1b 0.00
- G84R (p.Gly84Arg), gnomAD 16-66921895-C-T, ESM-1b 0.93, AlphaMissense 0.22
- S87* (p.Ser87Ter), gnomAD 16-66921897-G-T, CADD 7.76
- S87P (p.Ser87Pro), gnomAD 16-66921898-A-G, ESM-1b 0.00, AlphaMissense 0.10
- D88E (p.Asp88Glu), Ensembl rs1962972530, REVEL 0.23, ESM-1b 0.00
- E89G (p.Glu89Gly), Ensembl rs1596994771, REVEL 0.16, ESM-1b 0.00
- S90N (p.Ser90Asn), gnomAD rs1218055005, REVEL 0.16, ESM-1b 0.00
- S90C (p.Ser90Cys), gnomAD 16-66921889-T-A, ESM-1b 0.00, AlphaMissense 0.08
- V91F (p.Val91Phe), TOPMed rs1320058276, gnomAD rs1320058276, REVEL 0.35, ESM-1b 0.31
- V91I (p.Val91Ile), TOPMed rs1320058276, gnomAD rs1320058276, REVEL 0.11, ESM-1b 0.00
- Y92C (p.Tyr92Cys), gnomAD rs1289235462, REVEL 0.82, ESM-1b 1.00
- Y92* (p.Tyr92Ter), gnomAD 16-66921848-A-T, CADD 10.80
- Y92H (p.Tyr92His), gnomAD 16-66921850-A-G, ESM-1b 0.34, AlphaMissense 0.28
- K93E (p.Lys93Glu), rs535313872, gnomAD 16-66921907-T-C, ESM-1b 1.00, AlphaMissense 0.86
- K93Q (p.Lys93Gln), gnomAD 16-66921907-T-G, ESM-1b 0.19, AlphaMissense 0.50
- L96P (p.Leu96Pro), Ensembl rs1441818880, REVEL 0.93, ESM-1b 1.00
- L97Q (p.Leu97Gln), gnomAD rs1247043693, REVEL 0.91, ESM-1b 1.00
- G98S (p.Gly98Ser), gnomAD 16-66921883-C-T, ESM-1b 1.00, AlphaMissense 1.00
- A99G (p.Ala99Gly), ExAC rs777213767, gnomAD rs777213767, REVEL 0.19, ESM-1b 1.00
- A99P (p.Ala99Pro), ExAC rs746648665, TOPMed rs746648665, gnomAD rs746648665, ESM-1b 1.00, AlphaMissense 0.55, Uncertain significance
- A99S (p.Ala99Ser), rs746648665, ClinGen CA8098077, ClinVar RCV004085310, ExAC rs746648665, REVEL 0.26, ESM-1b 0.67, Uncertain significance, not specified
- A99T (p.Ala99Thr), rs142802019, gnomAD 16-66921859-C-T, ESM-1b 1.00, AlphaMissense 0.18
- A99E (p.Ala99Glu), gnomAD 16-66921909-G-T, ESM-1b 0.00, AlphaMissense 0.20
- P100S (p.Pro100Ser), TOPMed rs1962971542, REVEL 0.18, ESM-1b 0.00
- V102G (p.Val102Gly), ExAC rs778860198, TOPMed rs778860198, gnomAD rs778860198, REVEL 0.88, ESM-1b 1.00, Uncertain significance, not specified
- G103R (p.Gly103Arg), TOPMed rs1962971228, gnomAD rs1962971228, REVEL 0.98, ESM-1b 1.00
- K104M (p.Lys104Met), ExAC rs754757202, gnomAD rs754757202, REVEL 0.95, ESM-1b 1.00
- S105A (p.Ser105Ala), rs1596992703, gnomAD 16-66921844-A-C, ESM-1b 0.79, AlphaMissense 0.85
- S105P (p.Ser105Pro), rs1596992703, gnomAD 16-66921844-A-G, ESM-1b 1.00, AlphaMissense 1.00
- S105* (p.Ser105Ter), gnomAD 16-66921852-G-T, CADD 2.67
- S105S (p.Ser105Ser), rs2145483528, gnomAD 16-66921970-C-T, CADD 3.08
- S105L (p.Ser105Leu), rs1320179048, gnomAD 16-66921971-G-A, ESM-1b 1.00, AlphaMissense 0.97
- S105R (p.Ser105Arg), gnomAD 16-66921972-AG-A, CADD 4.50
- L107P (p.Leu107Pro), TOPMed rs1962970956, REVEL 0.89, ESM-1b 1.00
- L107L (p.Leu107Leu), rs1250217928, gnomAD 16-66921964-C-T, CADD 12.10
- L107M (p.Leu107Met), gnomAD 16-66921966-G-T, ESM-1b 1.00, AlphaMissense 0.59
- L107V (p.Leu107Val), rs563623017, gnomAD 16-66921966-G-C, ESM-1b 1.00, AlphaMissense 0.44
- L107R (p.Leu107Arg), gnomAD 16-66921970-CGAGG, CADD 4.28
- L107Q (p.Leu107Gln), gnomAD 16-66921980-A-T, ESM-1b 1.00, AlphaMissense 1.00
- A108G (p.Ala108Gly), ExAC rs767737687, TOPMed rs767737687, gnomAD rs767737687, REVEL 0.77, ESM-1b 1.00
- A108V (p.Ala108Val), ExAC rs767737687, TOPMed rs767737687, gnomAD rs767737687, REVEL 0.56, ESM-1b 1.00
- A108A (p.Ala108Ala), gnomAD 16-66921827-C-A, CADD 8.34
- A108E (p.Ala108Glu), gnomAD 16-66921828-G-T, ESM-1b 1.00, AlphaMissense 0.99
- A108T (p.Ala108Thr), rs113716031, gnomAD 16-66921832-C-T, ESM-1b 1.00, AlphaMissense 0.61
- A108S (p.Ala108Ser), rs113716031, gnomAD 16-66921832-C-A, ESM-1b 0.88, AlphaMissense 0.32
- A108D (p.Ala108Asp), gnomAD 16-66921989-G-T, ESM-1b 1.00, AlphaMissense 1.00
- R109G (p.Arg109Gly), ExAC rs751752299, TOPMed rs751752299, gnomAD rs751752299, REVEL 0.52, ESM-1b 0.00, Uncertain significance, not specified
- R109P (p.Arg109Pro), Ensembl rs1962970656, REVEL 0.67, ESM-1b 1.00
- R109L (p.Arg109Leu), rs576034385, gnomAD 16-66921810-GGCCT, CADD 6.12
- R109S (p.Arg109Ser), gnomAD 16-66921812-C-A, ESM-1b 0.00, AlphaMissense 0.43
- R109R (p.Arg109Arg), gnomAD 16-66921812-C-T, CADD 7.12
- R109M (p.Arg109Met), gnomAD 16-66921813-C-A, ESM-1b 1.00, AlphaMissense 0.55
- p.Arg116delinsThrGlnArgAlaGly, gnomAD 16-66921813-C-CCG, CADD 4.53
- R109K (p.Arg109Lys), rs2145483339, gnomAD 16-66921813-C-T, ESM-1b 0.64, AlphaMissense 0.21
- R109T (p.Arg109Thr), gnomAD 16-66921813-C-CCG, CADD 4.63
- R109* (p.Arg109Ter), gnomAD 16-66921871-T-A, CADD 8.13
- I110L (p.Ile110Leu), ExAC rs764130794, TOPMed rs764130794, gnomAD rs764130794, REVEL 0.26, ESM-1b 0.64
- I110V (p.Ile110Val), ExAC rs764130794, TOPMed rs764130794, gnomAD rs764130794, REVEL 0.36, ESM-1b 0.00
- F111S (p.Phe111Ser), gnomAD 16-66921779-GA-G, CADD 1.01
- F111F (p.Phe111Phe), gnomAD 16-66921779-G-A, CADD 3.70
- F111L (p.Phe111Leu), gnomAD 16-66921779-G-T, ESM-1b 0.54, AlphaMissense 1.00
Public RRAD analysis runs
- RRAD analysis run — RRAD (672 variants) — completed 2026-10-09