SIRT7 (Q9NRC8) variants and mutations
SIRT7 (also known as Q9NRC8) is a human protein-coding gene encoding a NAD-dependent protein deacetylase sirtuin-7 protein. Its annotated function is NAD-dependent protein-lysine deacylase that can act both as a deacetylase or deacylase (desuccinylase, depropionylase, deglutarylase and dedecanoylase), depending on the context. It is annotated at the nucleus, nucleolus. This analysis covers 719 SIRT7 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes neurodegenerative disease, neoplasm, and hepatocellular carcinoma. Example SIRT7 variants include A2T, A3G, and A3P.
Variant analysis overview
- Gene: SIRT7
- Protein: Q9NRC8
- UniProt accession: Q9NRC8
- Organism: Homo sapiens
- Variants analyzed: 719
- Variant scope: all variants
- Completed: 2026-10-23
Variant and mutation evidence
- Variant composition: 491 unspecified-consequence records; 1 stop retained variant; 94 synonymous variants; 17 frameshift variants; 130 missense variants; 4 in-frame deletions; 2 in-frame insertions; 3 stop-gained variants; 2 splice-region variants; 4 substitution
- Prediction scores: 710 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, neoplasm, hepatocellular carcinoma, breast cancer, cancer, breast carcinoma, melanoma, central nervous system cancer, glioma, lung cancer, lung carcinoma, endometrial cancer.
Protein structure and variant hotspots
- Protein features: 1 domains; 9 binding sites; 2 post-translational modification sites.
- Structural context: 412 variants have structural context.
- PTM context: 2 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 SIRT7 variants
Examples include A2T, A3G, A3P, A3S, A3V, G4A, G4R, G5A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2T (p.Ala2Thr), ExAC rs770785941, gnomAD rs770785941, REVEL 0.07, ESM-1b 0.32
- A3G (p.Ala3Gly), ExAC rs778568164, TOPMed rs778568164, gnomAD rs778568164, REVEL 0.04, ESM-1b 0.00
- A3P (p.Ala3Pro), ExAC rs771920520, TOPMed rs771920520, gnomAD rs771920520, REVEL 0.08, ESM-1b 0.00
- A3S (p.Ala3Ser), ExAC rs771920520, TOPMed rs771920520, gnomAD rs771920520, REVEL 0.07, ESM-1b 0.00
- A3V (p.Ala3Val), ExAC rs778568164, TOPMed rs778568164, gnomAD rs778568164, REVEL 0.07, ESM-1b 0.34
- G4A (p.Gly4Ala), ExAC rs746408225, gnomAD rs746408225, REVEL 0.07, ESM-1b 0.00
- G4R (p.Gly4Arg), gnomAD rs1396320144, REVEL 0.07, ESM-1b 0.00
- G5A (p.Gly5Ala), ExAC rs751933545, gnomAD rs751933545, REVEL 0.03, ESM-1b 0.00
- G5C (p.Gly5Cys), Ensembl rs2040843908, REVEL 0.09, ESM-1b 0.51
- G5S (p.Gly5Ser), Ensembl rs2040843908, REVEL 0.06, ESM-1b 0.00
- G5V (p.Gly5Val), ExAC rs751933545, gnomAD rs751933545, REVEL 0.10, ESM-1b 0.00
- L6R (p.Leu6Arg), TOPMed rs2040843750, gnomAD rs2040843750, REVEL 0.16, ESM-1b 0.00
- L6V (p.Leu6Val), ExAC rs758634203, TOPMed rs758634203, gnomAD rs758634203, REVEL 0.06, ESM-1b 0.00
- S7I (p.Ser7Ile), ExAC rs765331941, TOPMed rs765331941, gnomAD rs765331941, REVEL 0.06, ESM-1b 1.00
- S7N (p.Ser7Asn), ExAC rs765331941, TOPMed rs765331941, gnomAD rs765331941, REVEL 0.04, ESM-1b 0.89
- S7R (p.Ser7Arg), ExAC rs759489989, gnomAD rs759489989, REVEL 0.06, ESM-1b 0.00
- S7F (p.Ser7Phe), rs770197893, []
- R8H (p.Arg8His), ExAC rs776754109, TOPMed rs776754109, gnomAD rs776754109, REVEL 0.15, ESM-1b 0.41
- R8L (p.Arg8Leu), ExAC rs776754109, TOPMed rs776754109, gnomAD rs776754109, REVEL 0.10, ESM-1b 0.00
- R8S (p.Arg8Ser), rs2040843541, ClinGen CA401531196, ClinVar RCV004455952, gnomAD rs2040843541, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not specified
- E10* (p.Glu10Ter), ExAC rs766270177, TOPMed rs766270177, gnomAD rs766270177, CADD 37.00
- E10D (p.Glu10Asp), ExAC rs760658546, TOPMed rs760658546, gnomAD rs760658546, REVEL 0.07, ESM-1b 0.05
- E10K (p.Glu10Lys), ExAC rs766270177, TOPMed rs766270177, gnomAD rs766270177, REVEL 0.11, ESM-1b 0.00
- E10Q (p.Glu10Gln), NCI-TCGA Cosmic COSV1001, ExAC rs766270177, TOPMed rs766270177, gnomAD rs766270177, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R11C (p.Arg11Cys), rs1489157032, NCI-TCGA Cosmic COSV6081, gnomAD rs1489157032, REVEL 0.24, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- K12E (p.Lys12Glu), gnomAD rs1212662716, REVEL 0.16, ESM-1b 0.00
- A14G (p.Ala14Gly), gnomAD rs2040842885, REVEL 0.05, ESM-1b 0.15
- E15D (p.Glu15Asp), Ensembl rs2040842683, REVEL 0.04, ESM-1b 0.00
- E15G (p.Glu15Gly), ExAC rs771922843, REVEL 0.03, ESM-1b 0.00
- R16L (p.Arg16Leu), rs890363805, ClinGen CA401531097, ClinVar RCV004156798, REVEL 0.10, ESM-1b 0.16, Uncertain significance, not specified
- R16Q (p.Arg16Gln), rs890363805, ClinGen CA8844987, ClinVar RCV004455956, TOPMed rs890363805, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- R16W (p.Arg16Trp), Ensembl rs2040842571, REVEL 0.16, ESM-1b 1.00
- V17A (p.Val17Ala), gnomAD rs1302564242, REVEL 0.06, ESM-1b 0.00
- V17G (p.Val17Gly), gnomAD rs1302564242, REVEL 0.05, ESM-1b 0.00
- V17L (p.Val17Leu), ExAC rs747829799, TOPMed rs747829799, gnomAD rs747829799, REVEL 0.04, ESM-1b 0.00
- R18L (p.Arg18Leu), TOPMed rs929144539, gnomAD rs929144539, REVEL 0.06, ESM-1b 0.00
- R18P (p.Arg18Pro), TOPMed rs929144539, gnomAD rs929144539, REVEL 0.08, ESM-1b 1.00
- R19K (p.Arg19Lys), TOPMed rs1445386878, REVEL 0.05, ESM-1b 0.00
- L20M (p.Leu20Met), Ensembl rs2040841917, REVEL 0.14, ESM-1b 0.71
- R21G (p.Arg21Gly), ExAC rs779610329, TOPMed rs779610329, gnomAD rs779610329, REVEL 0.07, ESM-1b 0.40
- R21W (p.Arg21Trp), ExAC rs779610329, TOPMed rs779610329, gnomAD rs779610329, REVEL 0.15, ESM-1b 1.00
- E22* (p.Glu22Ter), ExAC rs771398362, TOPMed rs771398362, gnomAD rs771398362, CADD 40.00
- E22V (p.Glu22Val), TOPMed rs2040841734, gnomAD rs2040841734, REVEL 0.06, ESM-1b 0.00
- E23K (p.Glu23Lys), TOPMed rs2040841661, REVEL 0.02, ESM-1b 0.00
- Q24H (p.Gln24His), gnomAD rs2040841578, REVEL 0.05, ESM-1b 0.25
- Q24P (p.Gln24Pro), gnomAD rs1169552317, REVEL 0.03, ESM-1b 1.00
- Q25L (p.Gln25Leu), TOPMed rs1598345031, REVEL 0.05, ESM-1b 0.00
- Q25R (p.Gln25Arg), TOPMed rs1598345031, REVEL 0.06, ESM-1b 0.00
- R26G (p.Arg26Gly), ExAC rs747459185, gnomAD rs747459185, REVEL 0.11, ESM-1b 0.00
- R26T (p.Arg26Thr), Ensembl rs2143798545, REVEL 0.11, ESM-1b 1.00
- R28C (p.Arg28Cys), ExAC rs778117109, TOPMed rs778117109, gnomAD rs778117109, REVEL 0.12, ESM-1b 1.00
- R28P (p.Arg28Pro), ExAC rs758724029, TOPMed rs758724029, gnomAD rs758724029, REVEL 0.12, ESM-1b 1.00
- R28S (p.Arg28Ser), ExAC rs778117109, TOPMed rs778117109, gnomAD rs778117109, REVEL 0.08, ESM-1b 0.38
- L29F (p.Leu29Phe), gnomAD rs1251072463, REVEL 0.06, ESM-1b 1.00
- L29V (p.Leu29Val), gnomAD rs1251072463, REVEL 0.05, ESM-1b 0.00
- R30C (p.Arg30Cys), gnomAD rs1464979906, REVEL 0.20, ESM-1b 0.00
- R30H (p.Arg30His), Ensembl rs1281094082, REVEL 0.12, ESM-1b 0.00
- Q31K (p.Gln31Lys), gnomAD rs1249447234, REVEL 0.11, ESM-1b 0.00
- Q31R (p.Gln31Arg), TOPMed rs2040841025, REVEL 0.13, ESM-1b 0.00
- V32M (p.Val32Met), TOPMed rs956232867, REVEL 0.17, ESM-1b 0.71
- S33L (p.Ser33Leu), TOPMed rs1032292993, gnomAD rs1032292993, REVEL 0.09, ESM-1b 1.00
- R34C (p.Arg34Cys), rs1348487595, TOPMed rs1348487595, gnomAD rs1348487595, REVEL 0.13, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R34H (p.Arg34His), gnomAD rs1256438681, REVEL 0.06, ESM-1b 0.00
- L36R (p.Leu36Arg), TOPMed rs2040838407, REVEL 0.27, ESM-1b 1.00
- A39E (p.Ala39Glu), TOPMed rs955461072, gnomAD rs955461072, REVEL 0.08, ESM-1b 0.00
- A40V (p.Ala40Val), gnomAD rs1229836314, REVEL 0.02, ESM-1b 0.00
- E42* (p.Glu42Ter), TOPMed rs2040838071, CADD 37.00
- E42G (p.Glu42Gly), Ensembl rs1598344810, REVEL 0.03, ESM-1b 0.00
- R43C (p.Arg43Cys), ExAC rs778204773, gnomAD rs778204773, REVEL 0.24, ESM-1b 1.00
- R43G (p.Arg43Gly), ExAC rs778204773, gnomAD rs778204773, REVEL 0.23, ESM-1b 1.00
- R43H (p.Arg43His), gnomAD rs1341220012, REVEL 0.14, ESM-1b 0.51
- S44I (p.Ser44Ile), TOPMed rs996817095, gnomAD rs996817095, REVEL 0.17, ESM-1b 1.00
- S44T (p.Ser44Thr), TOPMed rs996817095, gnomAD rs996817095, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not specified
- E46* (p.Glu46Ter), TOPMed rs1016849597, gnomAD rs1016849597, CADD 38.00
- E46G (p.Glu46Gly), gnomAD rs1312168926, REVEL 0.17, ESM-1b 1.00
- E47K (p.Glu47Lys), 1000Genomes rs556305559, REVEL 0.13, ESM-1b 1.00
- G48C (p.Gly48Cys), gnomAD rs1430406166, REVEL 0.04, ESM-1b 0.00
- G48D (p.Gly48Asp), gnomAD rs1371859864, REVEL 0.03, ESM-1b 0.03
- G48A (p.Gly48Ala), NCI-TCGA Cosmic COSV1001, Variant assessed as somatic; moderate impact.
- R49G (p.Arg49Gly), 1000Genomes rs779335102, ExAC rs779335102, TOPMed rs779335102, gnomAD rs779335102, REVEL 0.08, ESM-1b 1.00, Uncertain significance, not specified
- R49Q (p.Arg49Gln), ExAC rs755215990, TOPMed rs755215990, gnomAD rs755215990, REVEL 0.05, ESM-1b 0.10, Uncertain significance, not specified
- R49W (p.Arg49Trp), 1000Genomes rs779335102, ExAC rs779335102, TOPMed rs779335102, gnomAD rs779335102, REVEL 0.10, ESM-1b 1.00, Uncertain significance, not specified
- A52S (p.Ala52Ser), gnomAD rs1257337635, REVEL 0.05, ESM-1b 0.00
- E53G (p.Glu53Gly), TOPMed rs1362706969, REVEL 0.05, ESM-1b 0.00
- E53K (p.Glu53Lys), TOPMed rs1484288625, gnomAD rs1484288625, REVEL 0.07, ESM-1b 1.00
- A55P (p.Ala55Pro), 1000Genomes rs538027127, REVEL 0.09, ESM-1b 0.00
- V58I (p.Val58Ile), Ensembl rs2040836482, REVEL 0.10, ESM-1b 0.37
- L61V (p.Leu61Val), rs1231732977, ClinGen CA401530718, ClinVar RCV004455951, 1000Genomes rs1231732977, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not specified
- R64Q (p.Arg64Gln), Ensembl rs899034236, REVEL 0.10, ESM-1b 1.00
- S65G (p.Ser65Gly), Ensembl rs1598344728, REVEL 0.10, ESM-1b 0.72
- S65R (p.Ser65Arg), gnomAD rs1292514796, REVEL 0.12, ESM-1b 0.00
- R66L (p.Arg66Leu), 1000Genomes rs577056649, TOPMed rs577056649, REVEL 0.12, ESM-1b 0.00
- R66P (p.Arg66Pro), 1000Genomes rs577056649, TOPMed rs577056649, REVEL 0.12, ESM-1b 1.00
- R66Q (p.Arg66Gln), 1000Genomes rs577056649, TOPMed rs577056649, REVEL 0.05, ESM-1b 0.00
- R66W (p.Arg66Trp), TOPMed rs1410228022, gnomAD rs1410228022, REVEL 0.14, ESM-1b 1.00
- R67P (p.Arg67Pro), gnomAD rs1337390885, REVEL 0.14, ESM-1b 1.00
- E69D (p.Glu69Asp), TOPMed rs1397192508, gnomAD rs1397192508, REVEL 0.17, ESM-1b 0.00
- E69K (p.Glu69Lys), rs1408812376, gnomAD rs1408812376, REVEL 0.18, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G70D (p.Gly70Asp), gnomAD rs1390891667, REVEL 0.20, ESM-1b 0.00
- L71R (p.Leu71Arg), TOPMed rs2040835672, REVEL 0.26, ESM-1b 1.00
- L71V (p.Leu71Val), Ensembl rs2143797381, REVEL 0.21, ESM-1b 0.00
- R73Q (p.Arg73Gln), gnomAD rs2040835558, REVEL 0.24, ESM-1b 1.00
- Q75* (p.Gln75Ter), TOPMed rs2040835444, gnomAD rs2040835444, CADD 50.00
- E77A (p.Glu77Ala), gnomAD rs1416732140, REVEL 0.18, ESM-1b 1.00
- V78G (p.Val78Gly), ExAC rs202037220, gnomAD rs202037220, REVEL 0.19, ESM-1b 1.00
- V78M (p.Val78Met), TOPMed rs2040832423, gnomAD rs2040832423, REVEL 0.12, ESM-1b 1.00
- C79T (p.Cys79Thr), NCI-TCGA Cosmic COSV6081, Variant assessed as somatic; moderate impact.
- C79G (p.Cys79Gly), ExAC rs774595294, REVEL 0.14, ESM-1b 1.00
- C79A (p.Cys79Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D80E (p.Asp80Glu), TOPMed rs1598344521, REVEL 0.14, ESM-1b 1.00
- D81E (p.Asp81Glu), TOPMed rs1318474799, gnomAD rs1318474799, REVEL 0.20, ESM-1b 0.00
- P82A (p.Pro82Ala), ExAC rs769022601, TOPMed rs769022601, gnomAD rs769022601, REVEL 0.08, ESM-1b 0.76
- P82L (p.Pro82Leu), TOPMed rs1165140090, gnomAD rs1165140090, REVEL 0.13, ESM-1b 1.00, Uncertain significance
- P82R (p.Pro82Arg), TOPMed rs1165140090, gnomAD rs1165140090, REVEL 0.19, ESM-1b 1.00, Uncertain significance, not specified
- P82S (p.Pro82Ser), ExAC rs769022601, TOPMed rs769022601, gnomAD rs769022601, REVEL 0.10, ESM-1b 1.00
- E84D (p.Glu84Asp), ExAC rs749492299, gnomAD rs749492299, REVEL 0.10, ESM-1b 0.20
- G87A (p.Gly87Ala), ExAC rs780368143, gnomAD rs780368143, REVEL 0.10, ESM-1b 0.00
- G87E (p.Gly87Glu), ExAC rs780368143, gnomAD rs780368143, REVEL 0.10, ESM-1b 0.00
- V89G (p.Val89Gly), TOPMed rs1197222368, REVEL 0.43, ESM-1b 1.00
- R90G (p.Arg90Gly), gnomAD rs1432541520, REVEL 0.07, ESM-1b 1.00
- R90L (p.Arg90Leu), TOPMed rs2040831502, REVEL 0.01, ESM-1b 1.00
- R90Q (p.Arg90Gln), TOPMed rs2040831502, REVEL 0.01, ESM-1b 0.00
- R90W (p.Arg90Trp), gnomAD rs1432541520, REVEL 0.08, ESM-1b 1.00
- E91G (p.Glu91Gly), Ensembl rs2040831440, REVEL 0.09, ESM-1b 1.00
- E91K (p.Glu91Lys), Ensembl rs966936754, REVEL 0.11, ESM-1b 1.00
- L92M (p.Leu92Met), rs2510093839, ClinGen CA401530514, ClinVar RCV004455953, REVEL 0.30, ESM-1b 1.00, Uncertain significance, not specified
- A93V (p.Ala93Val), gnomAD rs1343793146, REVEL 0.27, ESM-1b 0.41
- S94G (p.Ser94Gly), ExAC rs756369194, gnomAD rs756369194, REVEL 0.04, ESM-1b 0.00
- S94N (p.Ser94Asn), Ensembl rs2040831324, REVEL 0.05, ESM-1b 0.00
- S94R (p.Ser94Arg), ESP rs138673054, TOPMed rs138673054, gnomAD rs138673054, REVEL 0.03, ESM-1b 0.00
- V96A (p.Val96Ala), TOPMed rs1260143838, REVEL 0.14, ESM-1b 1.00
- R97W (p.Arg97Trp), TOPMed rs868815773, gnomAD rs868815773, REVEL 0.24, ESM-1b 1.00
- N98K (p.Asn98Lys), ExAC rs746011931, TOPMed rs746011931, gnomAD rs746011931, REVEL 0.01, ESM-1b 0.00
- A99T (p.Ala99Thr), gnomAD rs1172345435, REVEL 0.29, ESM-1b 1.00
- A99V (p.Ala99Val), ExAC rs781407219, TOPMed rs781407219, gnomAD rs781407219, REVEL 0.33, ESM-1b 1.00
- K100E (p.Lys100Glu), gnomAD rs1390911716, REVEL 0.01, ESM-1b 0.39
- Y101* (p.Tyr101Ter), ExAC rs757273702, TOPMed rs757273702, gnomAD rs757273702, CADD 37.00
- V103I (p.Val103Ile), gnomAD rs1241746106, REVEL 0.10, ESM-1b 1.00
- V104I (p.Val104Ile), gnomAD rs1442811394, REVEL 0.05, ESM-1b 0.00
- Y105C (p.Tyr105Cys), TOPMed rs1232041428, gnomAD rs1232041428, REVEL 0.42, ESM-1b 1.00
- T106I (p.Thr106Ile), TOPMed rs1297769126, gnomAD rs1297769126, REVEL 0.63, ESM-1b 1.00, Uncertain significance
- T106R (p.Thr106Arg), rs1297769126, ClinGen CA401530422, ClinVar RCV004357645, TOPMed rs1297769126, REVEL 0.66, ESM-1b 1.00, Uncertain significance, not specified
- A108T (p.Ala108Thr), gnomAD rs1269261934, REVEL 0.66, ESM-1b 1.00
- G109R (p.Gly109Arg), TOPMed rs2040830306, gnomAD rs2040830306, REVEL 0.87, ESM-1b 1.00
- G109V (p.Gly109Val), gnomAD rs1449152077, REVEL 0.87, ESM-1b 1.00
- S111I (p.Ser111Ile), Ensembl rs1567910565, REVEL 0.66, ESM-1b 1.00
- T112M (p.Thr112Met), Ensembl rs2040830050, REVEL 0.53, ESM-1b 1.00
- A113V (p.Ala113Val), TOPMed rs1364210247, gnomAD rs1364210247, REVEL 0.45, ESM-1b 1.00
- A114V (p.Ala114Val), ExAC rs760278283, gnomAD rs760278283, REVEL 0.64, ESM-1b 1.00
- I116V (p.Ile116Val), ExAC rs764725749, TOPMed rs764725749, gnomAD rs764725749, REVEL 0.37, ESM-1b 1.00
- D118E (p.Asp118Glu), 1000Genomes rs199582733, ExAC rs199582733, TOPMed rs199582733, REVEL 0.58, ESM-1b 1.00
- D118G (p.Asp118Gly), gnomAD rs1469435499, REVEL 0.81, ESM-1b 1.00, Uncertain significance, not specified
- D118V (p.Asp118Val), gnomAD rs1469435499, REVEL 0.77, ESM-1b 1.00
- R120Q (p.Arg120Gln), ExAC rs202234407, gnomAD rs202234407, REVEL 0.55, ESM-1b 1.00
- R120W (p.Arg120Trp), rs770215946, NCI-TCGA Cosmic COSV1001, ExAC rs770215946, gnomAD rs770215946, REVEL 0.67, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G121A (p.Gly121Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G121S (p.Gly121Ser), TOPMed rs567495341, REVEL 0.35, ESM-1b 1.00
- P122R (p.Pro122Arg), ExAC rs771256424, gnomAD rs771256424, REVEL 0.46, ESM-1b 1.00
- P122S (p.Pro122Ser), 1000Genomes rs200803537, gnomAD rs200803537, REVEL 0.21, ESM-1b 0.16
- G124A (p.Gly124Ala), NCI-TCGA TCGA novel, REVEL 0.55, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- W126* (p.Trp126Ter), TOPMed rs1446229023
- T127S (p.Thr127Ser), Ensembl rs1567909275, REVEL 0.26, ESM-1b 1.00
- Q130* (p.Gln130Ter), TOPMed rs1049371911, CADD 48.00
- Q130R (p.Gln130Arg), gnomAD rs1236525311, REVEL 0.08, ESM-1b 1.00
- K131N (p.Lys131Asn), Ensembl rs2040781113, REVEL 0.15, ESM-1b 1.00
- G132E (p.Gly132Glu), Ensembl rs200920164, REVEL 0.56, ESM-1b 1.00
- G132W (p.Gly132Trp), ExAC rs747980774, gnomAD rs747980774, REVEL 0.49, ESM-1b 1.00
- S134I (p.Ser134Ile), ExAC rs778687363, TOPMed rs778687363, gnomAD rs778687363, REVEL 0.04, ESM-1b 1.00
- S134N (p.Ser134Asn), ExAC rs778687363, TOPMed rs778687363, gnomAD rs778687363, REVEL 0.06, ESM-1b 1.00
- V135F (p.Val135Phe), ESP rs141043586, ExAC rs141043586, TOPMed rs141043586, gnomAD rs141043586, REVEL 0.08, ESM-1b 1.00
- V135I (p.Val135Ile), ESP rs141043586, ExAC rs141043586, TOPMed rs141043586, gnomAD rs141043586, REVEL 0.01, ESM-1b 0.00
- S136R (p.Ser136Arg), gnomAD rs1196401547, REVEL 0.10, ESM-1b 0.00
- A138T (p.Ala138Thr), TOPMed rs2040778354, REVEL 0.02, ESM-1b 0.00
- D139N (p.Asp139Asn), 1000Genomes rs538629892, ExAC rs538629892, TOPMed rs538629892, gnomAD rs538629892, REVEL 0.22, ESM-1b 1.00
- L140M (p.Leu140Met), ExAC rs200817918, TOPMed rs200817918, gnomAD rs200817918, REVEL 0.14, ESM-1b 1.00
- L140V (p.Leu140Val), ExAC rs200817918, TOPMed rs200817918, gnomAD rs200817918, REVEL 0.15, ESM-1b 1.00
- S141T (p.Ser141Thr), TOPMed rs1293618680, gnomAD rs1293618680, REVEL 0.17, ESM-1b 1.00
- E142G (p.Glu142Gly), TOPMed rs1312225068, gnomAD rs1312225068, REVEL 0.15, ESM-1b 1.00
- E142K (p.Glu142Lys), rs754316168, ClinGen CA8844862, ClinVar RCV004455954, ExAC rs754316168, REVEL 0.04, ESM-1b 0.00, Uncertain significance, not specified
- A143P (p.Ala143Pro), TOPMed rs2040777874, REVEL 0.52, ESM-1b 1.00
Public SIRT7 analysis runs
- SIRT7 analysis run — SIRT7 (719 variants) — completed 2026-10-23