AGTRAP (Q6RW13) variants and mutations
AGTRAP (also known as Q6RW13) is a human protein-coding gene encoding a type-1 angiotensin II receptor-associated protein. It helps limit angiotensin II signaling by promoting internalization of the type 1 angiotensin receptor. This regulation influences receptor responsiveness and angiotensin-driven cell growth, linking it to the control of vascular and metabolic signaling. This analysis covers 277 AGTRAP variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes cancer, hepatocellular carcinoma, and hydrops fetalis. Example AGTRAP variants include E2*, E2V, and E2G.
Variant analysis overview
- Gene: AGTRAP
- Protein: Q6RW13
- UniProt accession: Q6RW13
- Organism: Homo sapiens
- Variants analyzed: 277
- Variant scope: all variants
- Completed: 2026-10-06
Variant and mutation evidence
- Variant composition: 187 unspecified-consequence records; 6 stop-gained variants; 70 missense variants; 19 synonymous variants; 3 splice-region variants; 2 frameshift variants; 1 substitution
- Prediction scores: 272 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: cancer, hepatocellular carcinoma, hydrops fetalis, Other metabolic disease, metabolic disease, breast carcinoma, breast cancer, non-alcoholic fatty liver, hypertensive disorder, neoplasm, Hyperlipoproteinemia type 1, obesity due to melanocortin 4 receptor deficiency.
Protein structure and variant hotspots
- Protein features: 3 transmembrane segments; 5 post-translational modification sites.
- Structural context: 110 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable AGTRAP variants
Examples include E2*, E2V, E2G, E2E, E2D, L3P, L3M, L3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2* (p.Glu2Ter), gnomAD 1-11736212-G-T, CADD 41.00
- E2V (p.Glu2Val), gnomAD 1-11736213-A-T, REVEL 0.23, ESM-1b 0.00
- E2G (p.Glu2Gly), gnomAD 1-11736213-A-G, REVEL 0.17, ESM-1b 0.00
- E2E (p.Glu2Glu), gnomAD 1-11736214-G-A, CADD 14.50
- E2D (p.Glu2Asp), gnomAD 1-11736214-G-C, REVEL 0.08, ESM-1b 0.00
- L3P (p.Leu3Pro), Ensembl rs1641891824, ESM-1b 0.64, AlphaMissense 0.26
- L3M (p.Leu3Met), gnomAD 1-11736215-C-A, REVEL 0.23, ESM-1b 0.00
- L3L (p.Leu3Leu), rs761120138, gnomAD 1-11736215-C-T, CADD 15.70
- P4R (p.Pro4Arg), rs764597773, ClinGen CA17962899, ClinVar RCV004193763, TOPMed rs764597773, REVEL 0.28, ESM-1b 0.03, Uncertain significance, not specified
- P4S (p.Pro4Ser), TOPMed rs1404261833, gnomAD rs1404261833, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not specified
- P4T (p.Pro4Thr), gnomAD 1-11736218-C-A, REVEL 0.29, ESM-1b 0.00
- P4H (p.Pro4His), gnomAD 1-11736219-C-A, REVEL 0.30, ESM-1b 0.61
- P4Q (p.Pro4Gln), gnomAD 1-11744552-C-A, REVEL 0.03, ESM-1b 0.00
- P4P (p.Pro4Pro), rs531784986, gnomAD 1-11744553-A-G, CADD 5.06
- A5P (p.Ala5Pro), ExAC rs758559306, TOPMed rs758559306, gnomAD rs758559306, REVEL 0.22, ESM-1b 0.00
- A5T (p.Ala5Thr), ExAC rs758559306, TOPMed rs758559306, gnomAD rs758559306, ESM-1b 0.00, AlphaMissense 0.13
- A5V (p.Ala5Val), NCI-TCGA Cosmic COSV5866, cosmic curated COSV58669, TOPMed rs1641892490, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A5S (p.Ala5Ser), gnomAD 1-11736221-G-T, REVEL 0.05, ESM-1b 0.00
- A5A (p.Ala5Ala), gnomAD 1-11736223-T-C, CADD 11.60
- A5D (p.Ala5Asp), gnomAD 1-11744537-C-A, REVEL 0.05, ESM-1b 0.00
- V6M (p.Val6Met), gnomAD 1-11736224-G-A, REVEL 0.30, ESM-1b 0.00
- V6L (p.Val6Leu), gnomAD 1-11736224-G-T, REVEL 0.26, ESM-1b 0.00
- V6G (p.Val6Gly), gnomAD 1-11736225-T-G, REVEL 0.36, ESM-1b 0.00
- V6V (p.Val6Val), gnomAD 1-11736226-G-A, CADD 15.70
- L8P (p.Leu8Pro), gnomAD 1-11736231-T-C, REVEL 0.45, ESM-1b 1.00
- L8L (p.Leu8Leu), rs777849077, gnomAD 1-11736232-G-A, CADD 15.40
- K9R (p.Lys9Arg), ExAC rs757023878, gnomAD rs757023878, REVEL 0.17, ESM-1b 0.05
- V10V (p.Val10Val), rs776128152, gnomAD 1-11744550-C-T, CADD 3.07
- I11F (p.Ile11Phe), ESP rs149566941, TOPMed rs149566941, gnomAD rs149566941, REVEL 0.45, ESM-1b 0.05
- L12F (p.Leu12Phe), gnomAD rs1458909890, REVEL 0.20, ESM-1b 0.69
- L12L (p.Leu12Leu), rs771789958, gnomAD 1-11745811-C-T, CADD 5.87
- L13Q (p.Leu13Gln), rs1439121444, gnomAD 1-11745812-CT-C, CADD 26.50
- H15N (p.His15Asn), gnomAD 1-11744560-C-A, REVEL 0.09, ESM-1b 1.00
- H15Y (p.His15Tyr), rs1490038568, gnomAD 1-11744566-C-T, REVEL 0.01, ESM-1b 1.00
- H15H (p.His15His), rs1041791118, gnomAD 1-11744568-C-T, CADD 0.30
- H15P (p.His15Pro), rs761902386, gnomAD 1-11746138-A-C, REVEL 0.02, ESM-1b 1.00
- W16C (p.Trp16Cys), 1000Genomes rs565216934, ExAC rs565216934, gnomAD rs565216934, REVEL 0.63, ESM-1b 1.00
- W16G (p.Trp16Gly), Ensembl rs2100773943, ESM-1b 1.00, AlphaMissense 0.61
- L18M (p.Leu18Met), 1000Genomes rs532577781, ExAC rs532577781, gnomAD rs532577781, REVEL 0.26, ESM-1b 0.13
- L18L (p.Leu18Leu), rs532577781, gnomAD 1-11745827-C-T, CADD 12.40
- T19P (p.Thr19Pro), Ensembl rs2100773972, ESM-1b 1.00, AlphaMissense 0.74
- T20N (p.Thr20Asn), TOPMed rs1214871145, REVEL 0.09, ESM-1b 1.00
- T20T (p.Thr20Thr), rs902149711, gnomAD 1-11745835-C-T, CADD 14.20
- W21* (p.Trp21Ter), NCI-TCGA Cosmic COSV5866, cosmic curated COSV58669, TOPMed rs1570346569, CADD 45.00, SIFT 0.16, Variant assessed as somatic; high impact.
- G22A (p.Gly22Ala), ESP rs141555536, ExAC rs141555536, TOPMed rs141555536, gnomAD rs141555536, ESM-1b 0.00, AlphaMissense 0.30, Uncertain significance
- G22D (p.Gly22Asp), ESP rs141555536, ExAC rs141555536, TOPMed rs141555536, gnomAD rs141555536, REVEL 0.36, ESM-1b 1.00, Uncertain significance, not specified
- G22S (p.Gly22Ser), gnomAD 1-11747441-G-A, REVEL 0.23, ESM-1b 0.00
- G22G (p.Gly22Gly), rs768613161, gnomAD 1-11747443-C-T, CADD 7.28
- C23F (p.Cys23Phe), ExAC rs774325451, TOPMed rs774325451, gnomAD rs774325451, REVEL 0.31, ESM-1b 1.00
- C23Y (p.Cys23Tyr), ExAC rs774325451, TOPMed rs774325451, gnomAD rs774325451, REVEL 0.34, ESM-1b 1.00
- C23A (p.Cys23Ala), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10006, Variant assessed as somatic; moderate impact.
- C23G (p.Cys23Gly), rs17875987, gnomAD 1-11744533-T-G, REVEL 0.06, ESM-1b 1.00
- C23R (p.Cys23Arg), rs17875987, gnomAD 1-11744533-T-C, REVEL 0.01, ESM-1b 1.00
- C23* (p.Cys23Ter), rs76425466, gnomAD 1-11744535-C-A, CADD 3.63
- C23C (p.Cys23Cys), rs76425466, gnomAD 1-11744535-C-T, CADD 4.10
- C23W (p.Cys23Trp), rs1236513279, gnomAD 1-11746127-C-G, REVEL 0.07, ESM-1b 1.00
- C23S (p.Cys23Ser), rs372895164, gnomAD 1-11746188-T-A, REVEL 0.04, ESM-1b 0.67
- I24S (p.Ile24Ser), TOPMed rs1008647746, gnomAD rs1008647746, REVEL 0.14, ESM-1b 0.00
- I24V (p.Ile24Val), ExAC rs761607183, TOPMed rs761607183, gnomAD rs761607183, REVEL 0.01, ESM-1b 0.00
- I24L (p.Ile24Leu), gnomAD 1-11747447-A-C, REVEL 0.02, ESM-1b 0.00
- V25I (p.Val25Ile), gnomAD rs1261818960, REVEL 0.02, ESM-1b 0.00
- V25L (p.Val25Leu), gnomAD rs1261818960, ESM-1b 0.00, AlphaMissense 0.13
- S27P (p.Ser27Pro), rs1570343324, gnomAD 1-11744542-T-C, REVEL 0.05, ESM-1b 0.00
- S27C (p.Ser27Cys), gnomAD 1-11744543-CCA-C, CADD 3.67
- S27S (p.Ser27Ser), rs1642114211, gnomAD 1-11744544-C-G, CADD 0.47
- S27G (p.Ser27Gly), rs1234659901, gnomAD 1-11744545-A-G, REVEL 0.04, ESM-1b 0.00
- S27N (p.Ser27Asn), rs1642114330, gnomAD 1-11744546-G-A, REVEL 0.04, ESM-1b 0.00
- S27* (p.Ser27Ter), gnomAD 1-11747457-C-A, CADD 33.00
- S27L (p.Ser27Leu), gnomAD 1-11747457-C-T, REVEL 0.08, ESM-1b 0.00
- G28D (p.Gly28Asp), gnomAD rs1642191560, REVEL 0.06, ESM-1b 0.17
- G28V (p.Gly28Val), gnomAD 1-11747460-G-T, REVEL 0.08, ESM-1b 0.00
- S29F (p.Ser29Phe), TOPMed rs1421005786, REVEL 0.31, ESM-1b 1.00
- S29T (p.Ser29Thr), gnomAD rs1642191632, REVEL 0.14, ESM-1b 0.00
- S29Y (p.Ser29Tyr), rs768970322, gnomAD 1-11746144-C-A, REVEL 0.04, ESM-1b 1.00
- S29S (p.Ser29Ser), gnomAD 1-11746145-T-G, CADD 2.73
- Y30C (p.Tyr30Cys), cosmic curated COSV10519, ExAC rs772533948, gnomAD rs772533948, REVEL 0.59, ESM-1b 1.00
- Y30F (p.Tyr30Phe), gnomAD 1-11747466-A-T, REVEL 0.43, ESM-1b 0.00
- A31T (p.Ala31Thr), ExAC rs760195806, TOPMed rs760195806, gnomAD rs760195806, REVEL 0.11, ESM-1b 0.00
- A31V (p.Ala31Val), TOPMed rs1477544539, gnomAD rs1477544539, REVEL 0.15, ESM-1b 0.00
- W32R (p.Trp32Arg), rs1642157564, gnomAD 1-11746131-T-C, REVEL 0.04, ESM-1b 1.00
- W32C (p.Trp32Cys), gnomAD 1-11746133-G-T, REVEL 0.07, ESM-1b 1.00
- W32* (p.Trp32Ter), gnomAD 1-11746133-G-A, CADD 13.10
- A33T (p.Ala33Thr), gnomAD 1-11747474-G-A, REVEL 0.09, ESM-1b 0.00
- N34D (p.Asn34Asp), gnomAD 1-11747477-A-G, REVEL 0.61, ESM-1b 1.00
- N34S (p.Asn34Ser), gnomAD 1-11747478-A-G, REVEL 0.57, ESM-1b 1.00
- F35L (p.Phe35Leu), TOPMed rs993152131, gnomAD rs993152131, ESM-1b 0.36, AlphaMissense 0.88
- F35I (p.Phe35Ile), gnomAD 1-11746140-T-A, REVEL 0.01, ESM-1b 1.00
- F35F (p.Phe35Phe), rs1246596362, gnomAD 1-11746142-C-T, CADD 4.27
- T36I (p.Thr36Ile), ExAC rs766005493, TOPMed rs766005493, gnomAD rs766005493, REVEL 0.25, ESM-1b 0.00, Uncertain significance, not specified
- T36A (p.Thr36Ala), rs773239779, gnomAD 1-11746164-A-G, REVEL 0.01, ESM-1b 0.00
- T36T (p.Thr36Thr), rs372322834, gnomAD 1-11746166-C-G, CADD 3.54
- I37V (p.Ile37Val), TOPMed rs1474504123, ESM-1b 0.00, AlphaMissense 0.06
- L38Q (p.Leu38Gln), Ensembl rs561506896, ESM-1b 1.00, AlphaMissense 0.81
- L38V (p.Leu38Val), rs753525447, ClinGen CA338424940, ClinVar RCV004242950, ExAC rs753525447, REVEL 0.30, ESM-1b 1.00, Uncertain significance, not specified
- A39S (p.Ala39Ser), cosmic curated COSV58669, gnomAD rs1642193054, REVEL 0.36, ESM-1b 0.00
- A39V (p.Ala39Val), TOPMed rs1642193140, ESM-1b 0.00, AlphaMissense 0.43
- A39T (p.Ala39Thr), gnomAD 1-11746146-G-A, REVEL 0.03, ESM-1b 0.00
- A39A (p.Ala39Ala), rs375915810, gnomAD 1-11746148-C-T, CADD 7.13
- L40S (p.Leu40Ser), gnomAD rs1398753690, REVEL 0.39, ESM-1b 1.00
- L40V (p.Leu40Val), gnomAD 1-11746158-C-G, REVEL 0.08, ESM-1b 0.00
- L40Q (p.Leu40Gln), gnomAD 1-11746159-T-A, REVEL 0.10, ESM-1b 1.00
- L40F (p.Leu40Phe), gnomAD 1-11747497-G-C, REVEL 0.31, ESM-1b 0.00
- G41S (p.Gly41Ser), gnomAD 1-11747498-G-A, REVEL 0.60, ESM-1b 1.00
- V42L (p.Val42Leu), ExAC rs746794742, TOPMed rs746794742, gnomAD rs746794742, REVEL 0.19, ESM-1b 0.02
- V42M (p.Val42Met), cosmic curated COSV58668, ExAC rs746794742, TOPMed rs746794742, gnomAD rs746794742, REVEL 0.34, ESM-1b 1.00
- W43C (p.Trp43Cys), ExAC rs756327887, gnomAD rs756327887, ESM-1b 1.00, AlphaMissense 0.95
- A44S (p.Ala44Ser), gnomAD 1-11747507-G-T, REVEL 0.25, ESM-1b 1.00
- V45L (p.Val45Leu), ESP rs375907716, ExAC rs375907716, TOPMed rs375907716, gnomAD rs375907716, REVEL 0.03, ESM-1b 1.00
- A46P (p.Ala46Pro), ExAC rs749572710, TOPMed rs749572710, gnomAD rs749572710, REVEL 0.56, ESM-1b 1.00
- R48Q (p.Arg48Gln), rs146377549, cosmic curated COSV58668, ESP rs146377549, ExAC rs146377549, REVEL 0.15, ESM-1b 0.96, Uncertain significance, not specified
- R48W (p.Arg48Trp), rs200088833, ClinGen CA594462, ClinVar RCV004197779, 1000Genomes rs200088833, REVEL 0.43, ESM-1b 1.00, Uncertain significance, not specified
- R48I (p.Arg48Ile), rs1218320944, gnomAD 1-11744555-G-T, REVEL 0.02, ESM-1b 1.00
- R48K (p.Arg48Lys), gnomAD 1-11744555-G-A, REVEL 0.02, ESM-1b 0.09
- R48S (p.Arg48Ser), rs1217161894, gnomAD 1-11746136-A-T, REVEL 0.03, ESM-1b 1.00
- R48* (p.Arg48Ter), rs762942626, gnomAD 1-11746197-C-T, CADD 0.01
- R48R (p.Arg48Arg), gnomAD 1-11746212-A-C, CADD 0.07
- R48M (p.Arg48Met), gnomAD 1-11746213-G-T, REVEL 0.03, ESM-1b 1.00
- D49Y (p.Asp49Tyr), ExAC rs747983763, gnomAD rs747983763, REVEL 0.68, ESM-1b 1.00
- S50F (p.Ser50Phe), ExAC rs771850377, gnomAD rs771850377, REVEL 0.66, ESM-1b 1.00
- S50P (p.Ser50Pro), gnomAD 1-11747525-T-C, REVEL 0.68, ESM-1b 1.00
- I51F (p.Ile51Phe), rs770017595, ClinGen CA594466, ClinVar RCV004290046, ExAC rs770017595, REVEL 0.13, ESM-1b 0.54, Uncertain significance, not specified
- I51V (p.Ile51Val), ExAC rs770017595, TOPMed rs770017595, gnomAD rs770017595, REVEL 0.01, ESM-1b 0.00, Uncertain significance
- D52E (p.Asp52Glu), TOPMed rs1455779937, gnomAD rs1455779937, REVEL 0.31, ESM-1b 0.00
- D52N (p.Asp52Asn), rs760177353, cosmic curated COSV10964, NCI-TCGA Cosmic COSV5866, ExAC rs760177353, REVEL 0.50, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- A53S (p.Ala53Ser), 1000Genomes rs201093684, ExAC rs201093684, TOPMed rs201093684, gnomAD rs201093684, REVEL 0.37, ESM-1b 0.08, Uncertain significance
- A53T (p.Ala53Thr), rs201093684, ClinGen CA594469, ClinVar RCV004085613, 1000Genomes rs201093684, REVEL 0.53, ESM-1b 1.00, Uncertain significance, not specified
- A53V (p.Ala53Val), rs936361315, gnomAD 1-11746183-C-T, REVEL 0.02, ESM-1b 1.00
- A53A (p.Ala53Ala), gnomAD 1-11746184-A-G, CADD 0.11
- A53D (p.Ala53Asp), gnomAD 1-11747535-C-A, REVEL 0.66, ESM-1b 1.00
- I54V (p.Ile54Val), gnomAD 1-11747537-A-G, REVEL 0.16, ESM-1b 0.00
- I54K (p.Ile54Lys), gnomAD 1-11747538-T-A, REVEL 0.60, ESM-1b 1.00
- S55N (p.Ser55Asn), ExAC rs759145116, gnomAD rs759145116, REVEL 0.09, ESM-1b 0.95
- S55C (p.Ser55Cys), rs763519744, gnomAD 1-11746200-A-T, REVEL 0.00, ESM-1b 0.17
- M56V (p.Met56Val), cosmic curated COSV99041, ESP rs144060195, ExAC rs144060195, TOPMed rs144060195, REVEL 0.30, ESM-1b 1.00
- M56L (p.Met56Leu), gnomAD 1-11747543-A-C, REVEL 0.12, ESM-1b 1.00
- F57C (p.Phe57Cys), Ensembl rs1301376187, ESM-1b 1.00, AlphaMissense 0.84
- L58V (p.Leu58Val), rs1438510696, gnomAD 1-11746185-C-G, REVEL 0.01, ESM-1b 0.00
- L58P (p.Leu58Pro), rs759342369, gnomAD 1-11746186-T-C, REVEL 0.02, ESM-1b 1.00
- G59A (p.Gly59Ala), ExAC rs746809099, REVEL 0.04, ESM-1b 0.00
- G59C (p.Gly59Cys), ExAC rs777500651, gnomAD rs777500651, REVEL 0.06, ESM-1b 0.00
- L61M (p.Leu61Met), TOPMed rs1052893701, ESM-1b 1.00, AlphaMissense 0.14
- A63T (p.Ala63Thr), gnomAD rs1463248962, REVEL 0.03, ESM-1b 0.16
- A63V (p.Ala63Val), gnomAD rs1298350054, REVEL 0.09, ESM-1b 0.00
- A63A (p.Ala63Ala), gnomAD 1-11746205-A-G, CADD 0.92
- A63P (p.Ala63Pro), rs755348017, gnomAD 1-11746215-G-C, REVEL 0.02, ESM-1b 1.00
- A63D (p.Ala63Asp), gnomAD 1-11746222-C-A, REVEL 0.04, ESM-1b 1.00
- T64I (p.Thr64Ile), Ensembl rs1642225259, REVEL 0.01, ESM-1b 0.51
- T64A (p.Thr64Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T64R (p.Thr64Arg), rs1176415019, gnomAD 1-11746219-C-G, REVEL 0.05, ESM-1b 1.00
- I65V (p.Ile65Val), gnomAD rs1400913270, REVEL 0.05, ESM-1b 0.00
- F66V (p.Phe66Val), Ensembl rs1642225442, ESM-1b 0.00, AlphaMissense 0.10
- L67V (p.Leu67Val), gnomAD 1-11747443-C-G, REVEL 0.04, ESM-1b 1.00
- I69V (p.Ile69Val), TOPMed rs1295068400, gnomAD rs1295068400, REVEL 0.09, ESM-1b 0.00
- V70A (p.Val70Ala), Ensembl rs889592740, ESM-1b 0.35, AlphaMissense 0.35
- V70M (p.Val70Met), 1000Genomes rs373898147, ESP rs373898147, ExAC rs373898147, gnomAD rs373898147, REVEL 0.22, ESM-1b 0.80, Uncertain significance, not specified
- H71P (p.His71Pro), Ensembl rs1570348009, ESM-1b 1.00, AlphaMissense 0.59
- H71Y (p.His71Tyr), gnomAD rs1276113208, REVEL 0.03, ESM-1b 0.00
- H71N (p.His71Asn), gnomAD 1-11746209-C-A, REVEL 0.04, ESM-1b 0.59
- I72F (p.Ile72Phe), TOPMed rs1428241401, REVEL 0.10, ESM-1b 0.76
- S73N (p.Ser73Asn), gnomAD rs1252068594, REVEL 0.17, ESM-1b 1.00
- Y76H (p.Tyr76His), ExAC rs748922313, gnomAD rs748922313, ESM-1b 0.96, AlphaMissense 0.42
- Y76N (p.Tyr76Asn), ExAC rs748922313, gnomAD rs748922313, REVEL 0.38, ESM-1b 1.00
- Y76S (p.Tyr76Ser), Ensembl rs1570348062, ESM-1b 1.00, AlphaMissense 0.34
- P77L (p.Pro77Leu), gnomAD rs1259685768, REVEL 0.11, ESM-1b 1.00, Uncertain significance, not specified
- P77T (p.Pro77Thr), rs570451464, gnomAD 1-11746152-C-A, REVEL 0.02, ESM-1b 1.00
- P77S (p.Pro77Ser), rs570451464, gnomAD 1-11746152-C-T, REVEL 0.02, ESM-1b 0.48
- P77P (p.Pro77Pro), gnomAD 1-11746154-A-G, CADD 7.16
- R78G (p.Arg78Gly), rs377758973, ClinGen CA17967937, ClinVar RCV004387290, ESP rs377758973, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not specified
- R78P (p.Arg78Pro), ExAC rs766982120, TOPMed rs766982120, gnomAD rs766982120, ESM-1b 0.00, AlphaMissense 0.11
- R78Q (p.Arg78Gln), rs766982120, NCI-TCGA Cosmic COSV5866, cosmic curated COSV58668, ExAC rs766982120, REVEL 0.01, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R78W (p.Arg78Trp), ESP rs377758973, TOPMed rs377758973, gnomAD rs377758973, REVEL 0.03, ESM-1b 0.00, Uncertain significance
- V79G (p.Val79Gly), Ensembl rs1570348093, ESM-1b 0.00, AlphaMissense 0.05
- V79I (p.Val79Ile), Ensembl rs1642227369, REVEL 0.05, ESM-1b 0.00
- L81P (p.Leu81Pro), Ensembl rs1570348107, ESM-1b 0.00, AlphaMissense 0.13
- L81V (p.Leu81Val), rs1172241429, gnomAD 1-11747470-C-G, REVEL 0.04, ESM-1b 0.00
- T82M (p.Thr82Met), cosmic curated COSV10964, ExAC rs777346986, gnomAD rs777346986, REVEL 0.05, ESM-1b 0.00
- D83A (p.Asp83Ala), TOPMed rs1642228029, ESM-1b 0.00, AlphaMissense 0.31
- D83N (p.Asp83Asn), ESP rs200264555, ExAC rs200264555, TOPMed rs200264555, gnomAD rs200264555, REVEL 0.18, ESM-1b 0.00
- T84M (p.Thr84Met), ExAC rs752747010, TOPMed rs752747010, gnomAD rs752747010, REVEL 0.09, ESM-1b 0.15
- T84R (p.Thr84Arg), ExAC rs752747010, TOPMed rs752747010, gnomAD rs752747010, REVEL 0.11, ESM-1b 0.00
Public AGTRAP analysis runs
- AGTRAP analysis run — AGTRAP (277 variants) — completed 2026-10-06