SV2A (Synaptic vesicle glycoprotein 2A) variants and mutations
SV2A (also known as Synaptic vesicle glycoprotein 2A) is a human protein-coding gene encoding a synaptic vesicle glycoprotein 2A protein. A glycoprotein in synaptic-vesicle membranes that helps regulate controlled secretion in neurons and endocrine cells. It supports the readily releasable vesicle pool and efficient neurotransmitter release, and SV2A is strongly relevant to epilepsy research. This analysis covers 1,001 SV2A variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes epilepsy, Seizure, and Bilateral tonic-clonic seizure. Example SV2A variants include M1?, E2Q, and E3*.
Variant analysis overview
- Gene: SV2A
- Protein: Synaptic vesicle glycoprotein 2A
- UniProt accession: Q7L0J3
- Organism: Homo sapiens
- Variants analyzed: 1001
- Variant scope: all variants
- Completed: 2026-05-18
Variant and mutation evidence
- Variant composition: 743 unspecified-consequence records; 1 stop retained variant; 112 missense variants; 120 synonymous variants; 8 frameshift variants; 1 in-frame insertions; 1 stop lost; 2 stop-gained variants; 3 splice-region variants; 3 in-frame deletions; 6 substitution
- Prediction scores: 980 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: epilepsy, Seizure, Bilateral tonic-clonic seizure, botulism, neurodegenerative disease, Abnormality of the skeletal system, developmental and epileptic encephalopathy 113, fibromyalgia, Focal-onset seizure, Focal impaired awareness seizure, status epilepticus, type 2 diabetes mellitus.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 9 post-translational modification sites.
- Structural context: 301 variants have structural context.
- PTM context: 9 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, PharmGKB, MaveDB, LitVar.
Notable SV2A variants
Examples include M1?, E2Q, E3*, E3D, E3G, E3K, G4D, G4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, NCI-TCGA Cosmic COSV1009, Variant assessed as somatic; high impact.
- E2Q (p.Glu2Gln), TOPMed rs2092494550, ESM-1b 0.00, AlphaMissense 0.27
- E3* (p.Glu3Ter), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, Variant assessed as somatic; high impact.
- E3D (p.Glu3Asp), TOPMed rs1446025549, gnomAD rs1446025549, REVEL 0.10, ESM-1b 0.00
- E3G (p.Glu3Gly), gnomAD rs2092494455, REVEL 0.10, ESM-1b 0.00
- E3K (p.Glu3Lys), gnomAD rs1553764192, REVEL 0.12, ESM-1b 0.00
- G4D (p.Gly4Asp), gnomAD rs1553764190, REVEL 0.08, ESM-1b 0.00
- G4S (p.Gly4Ser), Ensembl rs2101626018, REVEL 0.09, ESM-1b 0.00
- R6* (p.Arg6Ter), TOPMed rs1553764189, gnomAD rs1553764189, CADD 34.00
- R6Q (p.Arg6Gln), rs138530043, cosmic curated COSV10097, ESP rs138530043, ExAC rs138530043, REVEL 0.13, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R8P (p.Arg8Pro), rs140742320, ClinGen CA29983215, ClinVar RCV004069910, ESP rs140742320, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not specified
- R8Q (p.Arg8Gln), rs140742320, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, ESP rs140742320, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- R8W (p.Arg8Trp), ExAC rs782697320, gnomAD rs782697320, REVEL 0.29, ESM-1b 0.00
- A9V (p.Ala9Val), ESP rs377199913, ExAC rs377199913, TOPMed rs377199913, gnomAD rs377199913, REVEL 0.09, ESM-1b 0.00
- I12M (p.Ile12Met), ExAC rs782107503, TOPMed rs782107503, gnomAD rs782107503, REVEL 0.09, ESM-1b 0.00
- I12V (p.Ile12Val), ESP rs149833121, ExAC rs149833121, TOPMed rs149833121, gnomAD rs149833121, REVEL 0.10, ESM-1b 0.00
- R13C (p.Arg13Cys), rs781957523, ClinGen CA1071317, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, REVEL 0.15, ESM-1b 1.00, Uncertain significance, not specified
- R13H (p.Arg13His), rs141056600, ClinGen CA1071316, ClinVar RCV004250639, ESP rs141056600, REVEL 0.12, ESM-1b 0.00, Uncertain significance, not specified
- R13S (p.Arg13Ser), NCI-TCGA Cosmic COSV1009, ESM-1b 0.00, AlphaMissense 0.65, Variant assessed as somatic; moderate impact.
- A15V (p.Ala15Val), rs782574888, ExAC rs782574888, TOPMed rs782574888, gnomAD rs782574888, REVEL 0.28, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D17E (p.Asp17Glu), ExAC rs782438295, TOPMed rs782438295, gnomAD rs782438295, REVEL 0.21, ESM-1b 0.00
- D17G (p.Asp17Gly), TOPMed rs2092493960, REVEL 0.32, ESM-1b 0.00
- I18M (p.Ile18Met), Ensembl rs1553764176, REVEL 0.15, ESM-1b 0.00
- I18T (p.Ile18Thr), TOPMed rs1571509547, gnomAD rs1571509547, REVEL 0.19, ESM-1b 0.00
- I18V (p.Ile18Val), ExAC rs782281762, gnomAD rs782281762, REVEL 0.11, ESM-1b 0.00
- K20R (p.Lys20Arg), Ensembl rs888406783, ESM-1b 0.00, AlphaMissense 0.07
- K23E (p.Lys23Glu), ESP rs142875032, ExAC rs142875032, TOPMed rs142875032, gnomAD rs142875032, REVEL 0.21, ESM-1b 0.00
- K24R (p.Lys24Arg), Ensembl rs781826853, REVEL 0.02, ESM-1b 0.00
- H25N (p.His25Asn), Ensembl rs2101625845, ESM-1b 0.00, AlphaMissense 0.12
- H25R (p.His25Arg), TOPMed rs1225491475, gnomAD rs1225491475, REVEL 0.06, ESM-1b 0.00
- A26V (p.Ala26Val), rs1266350376, TOPMed rs1266350376, gnomAD rs1266350376, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A27T (p.Ala27Thr), TOPMed rs2092493365, ESM-1b 0.00, AlphaMissense 0.06
- K29R (p.Lys29Arg), gnomAD rs1553764170, REVEL 0.11, ESM-1b 0.00
- R36S (p.Arg36Ser), ESP rs144119876, ExAC rs144119876, TOPMed rs144119876, gnomAD rs144119876, REVEL 0.12, ESM-1b 0.00
- R36T (p.Arg36Thr), ExAC rs782459392, TOPMed rs782459392, gnomAD rs782459392, REVEL 0.09, ESM-1b 0.00
- E40K (p.Glu40Lys), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, TOPMed rs1160683240, gnomAD rs1160683240, REVEL 0.17, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E40Q (p.Glu40Gln), TOPMed rs1160683240, gnomAD rs1160683240, REVEL 0.14, ESM-1b 0.00
- Y41C (p.Tyr41Cys), TOPMed rs1409136448, gnomAD rs1409136448, REVEL 0.27, ESM-1b 1.00
- Y41S (p.Tyr41Ser), TOPMed rs1409136448, gnomAD rs1409136448, REVEL 0.26, ESM-1b 0.00
- S42F (p.Ser42Phe), rs1457123133, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, TOPMed rs1457123133, ESM-1b 0.00, AlphaMissense 0.56, Variant assessed as somatic; moderate impact.
- R43Q (p.Arg43Gln), cosmic curated COSV10651, gnomAD rs1553764161, REVEL 0.09, ESM-1b 0.00
- R44K (p.Arg44Lys), TOPMed rs1177766964, gnomAD rs1177766964, ESM-1b 0.00, AlphaMissense 0.14
- R44T (p.Arg44Thr), TOPMed rs1177766964, gnomAD rs1177766964, REVEL 0.14, ESM-1b 0.00
- S45* (p.Ser45Ter), ExAC rs782071934, gnomAD rs782071934, CADD 36.00
- S45L (p.Ser45Leu), cosmic curated COSV64964, ExAC rs782071934, gnomAD rs782071934, REVEL 0.20, ESM-1b 0.00
- S45P (p.Ser45Pro), Ensembl rs2092492449, REVEL 0.14, ESM-1b 0.00
- S45W (p.Ser45Trp), ExAC rs782071934, gnomAD rs782071934, REVEL 0.21, ESM-1b 1.00
- Y46H (p.Tyr46His), rs781932183, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, ExAC rs781932183, REVEL 0.23, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- S47A (p.Ser47Ala), ExAC rs782695424, REVEL 0.03, ESM-1b 0.00
- S47C (p.Ser47Cys), rs1394633706, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, TOPMed rs1394633706, ESM-1b 1.00, AlphaMissense 0.18, Variant assessed as somatic; moderate impact.
- R48C (p.Arg48Cys), ExAC rs782171897, TOPMed rs782171897, gnomAD rs782171897, REVEL 0.22, ESM-1b 1.00, Uncertain significance, not specified
- R48H (p.Arg48His), cosmic curated COSV64964, ExAC rs782027117, TOPMed rs782027117, gnomAD rs782027117, REVEL 0.17, ESM-1b 0.00
- E52D (p.Glu52Asp), rs782780934, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, ExAC rs782780934, REVEL 0.03, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E52K (p.Glu52Lys), TOPMed rs1444649351, gnomAD rs1444649351, REVEL 0.10, ESM-1b 1.00
- D53E (p.Asp53Glu), rs1224279304, ClinGen CA1071293, ClinVar RCV004115804, TOPMed rs1224279304, REVEL 0.05, ESM-1b 0.00, Likely benign, not specified
- D54V (p.Asp54Val), ExAC rs782245410, gnomAD rs782245410, REVEL 0.22, ESM-1b 0.71
- D55N (p.Asp55Asn), gnomAD rs1553764150, REVEL 0.10, ESM-1b 0.86
- D55V (p.Asp55Val), 1000Genomes rs201845756, ExAC rs201845756, TOPMed rs201845756, gnomAD rs201845756, REVEL 0.19, ESM-1b 0.49
- D56E (p.Asp56Glu), 1000Genomes rs199556773, TOPMed rs199556773, REVEL 0.10, ESM-1b 0.00
- P59S (p.Pro59Ser), rs782202922, ExAC rs782202922, gnomAD rs782202922, REVEL 0.05, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P59P (p.Pro59Pro), rs782737646, []
- A60P (p.Ala60Pro), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- A60T (p.Ala60Thr), ESP rs141689348, ExAC rs141689348, TOPMed rs141689348, gnomAD rs141689348, REVEL 0.18, ESM-1b 0.00
- A60V (p.Ala60Val), rs1183913151, ClinGen CA342270754, ClinVar RCV004363682, TOPMed rs1183913151, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not specified
- P61A (p.Pro61Ala), ExAC rs782533416, gnomAD rs782533416, REVEL 0.02, ESM-1b 0.00
- S62G (p.Ser62Gly), TOPMed rs889869746, gnomAD rs889869746, REVEL 0.05, ESM-1b 0.00
- D63H (p.Asp63His), Ensembl rs2101625525, ESM-1b 0.00, AlphaMissense 0.34
- G64V (p.Gly64Val), Ensembl rs1249237389, REVEL 0.14, ESM-1b 0.00
- Y65C (p.Tyr65Cys), gnomAD rs2092491661, REVEL 0.19, ESM-1b 0.99
- Y66* (p.Tyr66Ter), Ensembl rs2092491621
- Y66H (p.Tyr66His), gnomAD rs1553764141, REVEL 0.07, ESM-1b 0.00
- R67* (p.Arg67Ter), rs1050227446, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, gnomAD rs1050227446, CADD 35.00, Variant assessed as somatic; high impact.
- R67G (p.Arg67Gly), gnomAD rs1050227446, REVEL 0.14, ESM-1b 0.00
- R67L (p.Arg67Leu), ExAC rs782641312, TOPMed rs782641312, gnomAD rs782641312, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not specified
- R67P (p.Arg67Pro), ExAC rs782641312, TOPMed rs782641312, gnomAD rs782641312, REVEL 0.14, ESM-1b 0.00, Uncertain significance
- R67Q (p.Arg67Gln), rs782641312, ExAC rs782641312, TOPMed rs782641312, gnomAD rs782641312, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- G68R (p.Gly68Arg), Ensembl rs2092491484, REVEL 0.13, ESM-1b 0.00
- G68V (p.Gly68Val), ExAC rs781813114, gnomAD rs781813114, REVEL 0.10, ESM-1b 0.00
- E69G (p.Glu69Gly), ExAC rs782701966, REVEL 0.06, ESM-1b 0.00
- T71S (p.Thr71Ser), gnomAD rs1553764135, REVEL 0.10, ESM-1b 0.00
- T71D (p.Thr71Asp), rs782697320, []
- D73A (p.Asp73Ala), gnomAD rs914540027, REVEL 0.12, ESM-1b 0.00
- D73G (p.Asp73Gly), gnomAD rs914540027, REVEL 0.15, ESM-1b 0.00
- E74K (p.Glu74Lys), ExAC rs782445602, gnomAD rs782445602, REVEL 0.14, ESM-1b 0.87
- E76K (p.Glu76Lys), rs587633846, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, 1000Genomes rs587633846, REVEL 0.13, ESM-1b 0.39, Variant assessed as somatic; moderate impact.
- G77C (p.Gly77Cys), cosmic curated COSV10097, gnomAD rs1553764132, REVEL 0.23, ESM-1b 1.00
- G77S (p.Gly77Ser), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- G78C (p.Gly78Cys), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.29, Variant assessed as somatic; moderate impact.
- G78S (p.Gly78Ser), TOPMed rs2092491174, ESM-1b 0.00, AlphaMissense 0.12
- S80P (p.Ser80Pro), ExAC rs782802218, gnomAD rs782802218, REVEL 0.09, ESM-1b 0.00
- S80Y (p.Ser80Tyr), gnomAD rs1553764130, REVEL 0.10, ESM-1b 0.00
- D82G (p.Asp82Gly), TOPMed rs1465012607, gnomAD rs1465012607, REVEL 0.34, ESM-1b 0.00
- A83D (p.Ala83Asp), cosmic curated COSV10821, Ensembl rs2092491025, REVEL 0.12, ESM-1b 0.00
- E85* (p.Glu85Ter), ExAC rs782141787, gnomAD rs782141787
- E85K (p.Glu85Lys), ExAC rs782141787, gnomAD rs782141787, REVEL 0.25, ESM-1b 0.10
- H87R (p.His87Arg), TOPMed rs2092490960, gnomAD rs2092490960, REVEL 0.33, ESM-1b 0.00
- E89K (p.Glu89Lys), cosmic curated COSV64965, gnomAD rs1553764126, REVEL 0.20, ESM-1b 0.82
- E89V (p.Glu89Val), Ensembl rs2092490865, REVEL 0.16, ESM-1b 0.00
- E92D (p.Glu92Asp), TOPMed rs1553764122, gnomAD rs1553764122, REVEL 0.09, ESM-1b 0.00
- E92K (p.Glu92Lys), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, REVEL 0.21, ESM-1b 0.93, Variant assessed as somatic; moderate impact.
- E95A (p.Glu95Ala), TOPMed rs2092490739, REVEL 0.19, ESM-1b 0.00
- G96W (p.Gly96Trp), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- Y98H (p.Tyr98His), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- Q99* (p.Gln99Ter), TOPMed rs1397678349, gnomAD rs1397678349, CADD 37.00
- Q99H (p.Gln99His), TOPMed rs2092490640, ESM-1b 0.00, AlphaMissense 0.99
- G100D (p.Gly100Asp), gnomAD rs1553764119, REVEL 0.39, ESM-1b 0.18
- G100R (p.Gly100Arg), gnomAD rs1553764120, REVEL 0.41, ESM-1b 0.00
- I101T (p.Ile101Thr), ExAC rs782308977, gnomAD rs782308977, REVEL 0.36, ESM-1b 0.00
- I101V (p.Ile101Val), cosmic curated COSV10606, ExAC rs781943756, gnomAD rs781943756, REVEL 0.08, ESM-1b 0.00
- P102L (p.Pro102Leu), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, REVEL 0.27, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P102S (p.Pro102Ser), cosmic curated COSV64965, TOPMed rs1553764114, gnomAD rs1553764114, REVEL 0.25, ESM-1b 0.00
- R103L (p.Arg103Leu), 1000Genomes rs587760193, ExAC rs587760193, TOPMed rs587760193, gnomAD rs587760193, REVEL 0.09, ESM-1b 0.00, Uncertain significance
- R103Q (p.Arg103Gln), rs587760193, NCI-TCGA Cosmic COSV6496, 1000Genomes rs587760193, ExAC rs587760193, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not specified
- R103W (p.Arg103Trp), cosmic curated COSV64964, ESP rs144624887, ExAC rs144624887, TOPMed rs144624887, REVEL 0.18, ESM-1b 0.79
- A104T (p.Ala104Thr), gnomAD rs1553764110, REVEL 0.03, ESM-1b 0.00, Uncertain significance, not specified
- E105D (p.Glu105Asp), TOPMed rs1350147713, gnomAD rs1350147713, REVEL 0.03, ESM-1b 0.00
- E105K (p.Glu105Lys), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, ESM-1b 0.00, AlphaMissense 0.36, Variant assessed as somatic; moderate impact.
- S106C (p.Ser106Cys), ExAC rs782231605, gnomAD rs782231605, REVEL 0.13, ESM-1b 1.00
- G107V (p.Gly107Val), Ensembl rs2092490294, REVEL 0.13, ESM-1b 0.00
- G108D (p.Gly108Asp), rs142331474, ClinGen CA1071265, ClinVar RCV003939468, 1000Genomes rs142331474, REVEL 0.03, ESM-1b 0.00, Likely benign, SV2A-related disorder
- G108V (p.Gly108Val), 1000Genomes rs142331474, ESP rs142331474, ExAC rs142331474, TOPMed rs142331474, REVEL 0.04, ESM-1b 0.00, Likely benign
- K109E (p.Lys109Glu), rs782445602, []
- G110D (p.Gly110Asp), Ensembl rs2092490223, REVEL 0.10, ESM-1b 0.00
- E111K (p.Glu111Lys), rs782685059, NCI-TCGA Cosmic COSV6496, cosmic curated COSV64965, ExAC rs782685059, REVEL 0.14, ESM-1b 0.00, Uncertain significance
- E111Q (p.Glu111Gln), rs782685059, ClinGen CA1071264, ClinVar RCV004304746, ExAC rs782685059, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not specified
- R112G (p.Arg112Gly), 1000Genomes rs587649813, ExAC rs587649813, gnomAD rs587649813, REVEL 0.15, ESM-1b 0.00
- R112Q (p.Arg112Gln), cosmic curated COSV64965, ExAC rs782642962, TOPMed rs782642962, gnomAD rs782642962, REVEL 0.04, ESM-1b 0.00
- R112W (p.Arg112Trp), 1000Genomes rs587649813, ExAC rs587649813, gnomAD rs587649813, REVEL 0.16, ESM-1b 0.00
- M113V (p.Met113Val), ExAC rs782489043, gnomAD rs782489043, REVEL 0.04, ESM-1b 0.00
- D115E (p.Asp115Glu), cosmic curated COSV10529, Ensembl rs2092489973, REVEL 0.04, ESM-1b 0.00
- D115H (p.Asp115His), ESP rs371863053, ExAC rs371863053, TOPMed rs371863053, gnomAD rs371863053, REVEL 0.10, ESM-1b 0.00
- D115N (p.Asp115Asn), NCI-TCGA TCGA novel, ESP rs371863053, ExAC rs371863053, TOPMed rs371863053, REVEL 0.07, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G116R (p.Gly116Arg), ExAC rs782710040, gnomAD rs782710040, REVEL 0.08, ESM-1b 0.00
- A117V (p.Ala117Val), cosmic curated COSV10651, ExAC rs781903721, TOPMed rs781903721, gnomAD rs781903721, REVEL 0.04, ESM-1b 0.00
- L119M (p.Leu119Met), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, ESM-1b 0.00, AlphaMissense 0.09, Variant assessed as somatic; moderate impact.
- L119R (p.Leu119Arg), Ensembl rs1482538332, REVEL 0.09, ESM-1b 0.00
- A120T (p.Ala120Thr), gnomAD rs1553764089, REVEL 0.08, ESM-1b 0.00
- A120V (p.Ala120Val), TOPMed rs2092489667, REVEL 0.07, ESM-1b 0.00
- G121A (p.Gly121Ala), TOPMed rs2092489559, REVEL 0.06, ESM-1b 0.00
- G121R (p.Gly121Arg), Ensembl rs2092489594, REVEL 0.05, ESM-1b 0.00
- V122G (p.Val122Gly), Ensembl rs1571508602, REVEL 0.02, ESM-1b 0.00
- V122I (p.Val122Ile), TOPMed rs2092489535, gnomAD rs2092489535, REVEL 0.03, ESM-1b 0.00
- R123G (p.Arg123Gly), 1000Genomes rs781971375, ExAC rs781971375, gnomAD rs781971375, REVEL 0.20, ESM-1b 0.00
- R123K (p.Arg123Lys), ESP rs372412744, ExAC rs372412744, TOPMed rs372412744, gnomAD rs372412744, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not specified
- R123M (p.Arg123Met), ESP rs372412744, ExAC rs372412744, TOPMed rs372412744, gnomAD rs372412744, REVEL 0.12, ESM-1b 0.08
- R123S (p.Arg123Ser), ExAC rs781913070, TOPMed rs781913070, gnomAD rs781913070, REVEL 0.28, ESM-1b 0.00
- G124E (p.Gly124Glu), gnomAD rs1553764085, REVEL 0.18, ESM-1b 0.00
- G124R (p.Gly124Arg), 1000Genomes rs199502893, ExAC rs199502893, TOPMed rs199502893, gnomAD rs199502893, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- G124W (p.Gly124Trp), rs199502893, ClinGen CA29981588, ClinVar RCV004161843, 1000Genomes rs199502893, ESM-1b 1.00, AlphaMissense 0.24, Uncertain significance, not specified
- G125A (p.Gly125Ala), NCI-TCGA TCGA novel, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G125C (p.Gly125Cys), ExAC rs782279997, TOPMed rs782279997, gnomAD rs782279997, REVEL 0.14, ESM-1b 1.00
- G125D (p.Gly125Asp), ExAC rs782645514, TOPMed rs782645514, gnomAD rs782645514, REVEL 0.14, ESM-1b 0.00
- G125S (p.Gly125Ser), ExAC rs782279997, TOPMed rs782279997, gnomAD rs782279997, REVEL 0.10, ESM-1b 0.00
- L126W (p.Leu126Trp), Ensembl rs1571508528, REVEL 0.14, ESM-1b 0.00
- S127C (p.Ser127Cys), 1000Genomes rs192119231, REVEL 0.11, ESM-1b 0.96
- S127G (p.Ser127Gly), 1000Genomes rs192119231, REVEL 0.04, ESM-1b 0.00
- S127R (p.Ser127Arg), gnomAD rs1425564934, REVEL 0.04, ESM-1b 0.00
- D128E (p.Asp128Glu), Ensembl rs1295294081, REVEL 0.09, ESM-1b 0.00
- G129V (p.Gly129Val), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, REVEL 0.05, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E130A (p.Glu130Ala), Ensembl rs2101624947, REVEL 0.02, ESM-1b 0.00
- E130D (p.Glu130Asp), Ensembl rs2092489000, REVEL 0.04, ESM-1b 0.00
- G131C (p.Gly131Cys), ExAC rs782381989, gnomAD rs782381989, REVEL 0.08, ESM-1b 1.00
- G131V (p.Gly131Val), gnomAD rs1553764076, REVEL 0.08, ESM-1b 0.00
- P132T (p.Pro132Thr), Ensembl rs1571508453, ESM-1b 0.00, AlphaMissense 0.06
- P133S (p.Pro133Ser), ExAC rs782237402, gnomAD rs782237402, REVEL 0.04, ESM-1b 0.00
- G135A (p.Gly135Ala), NCI-TCGA TCGA novel, REVEL 0.08, MetaLR 0.05, Variant assessed as somatic; high impact.
- G135S (p.Gly135Ser), ExAC rs782605512, gnomAD rs782605512, REVEL 0.04, ESM-1b 0.00
- R136G (p.Arg136Gly), 1000Genomes rs782452680, ExAC rs782452680, TOPMed rs782452680, gnomAD rs782452680, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance
- R136L (p.Arg136Leu), NCI-TCGA Cosmic COSV6496, cosmic curated COSV64964, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R136P (p.Arg136Pro), 1000Genomes rs200722955, ExAC rs200722955, TOPMed rs200722955, gnomAD rs200722955, REVEL 0.04, ESM-1b 0.00, Uncertain significance, not specified
- R136Q (p.Arg136Gln), rs200722955, NCI-TCGA Cosmic COSV6496, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R136W (p.Arg136Trp), rs782452680, ClinGen CA1071242, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not specified
- G137A (p.Gly137Ala), TOPMed rs1326993187, gnomAD rs1326993187, REVEL 0.04, ESM-1b 0.00
- G137E (p.Gly137Glu), cosmic curated COSV64964, TOPMed rs1326993187, gnomAD rs1326993187, REVEL 0.07, ESM-1b 0.00
- G137V (p.Gly137Val), TOPMed rs1326993187, gnomAD rs1326993187, REVEL 0.15, ESM-1b 0.00
- E138G (p.Glu138Gly), Ensembl rs1571508315, REVEL 0.12, ESM-1b 0.00
- E138K (p.Glu138Lys), ExAC rs782692651, gnomAD rs782692651, REVEL 0.14, ESM-1b 0.00
- E138Q (p.Glu138Gln), ExAC rs782692651, gnomAD rs782692651, REVEL 0.15, ESM-1b 0.00
- A139V (p.Ala139Val), TOPMed rs2092488555, REVEL 0.06, ESM-1b 0.00
- Q140P (p.Gln140Pro), gnomAD rs1553764065, REVEL 0.10, ESM-1b 0.00
Public SV2A analysis runs
- SV2A analysis run — SV2A (1,001 variants) — completed 2026-05-18