GNA13 (Q14344) variants and mutations
GNA13 (also known as Q14344) is a human protein-coding gene encoding a guanine nucleotide-binding protein subunit alpha-13 protein. It couples selected receptors to Rho-family signaling, controlling cytoskeletal organization, migration, and lymphocyte positioning. Somatic loss-of-function variants are recurrent in germinal-center B-cell lymphomas and can disrupt normal confinement of B cells within lymphoid follicles. This analysis covers 641 GNA13 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes lymphoma, neurodegenerative disease, and diffuse large B-cell lymphoma. Example GNA13 variants include A2V, P6L, and P6S.
Variant analysis overview
- Gene: GNA13
- Protein: Q14344
- UniProt accession: Q14344
- Organism: Homo sapiens
- Variants analyzed: 641
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 332 unspecified-consequence records; 1 stop retained variant; 125 synonymous variants; 159 missense variants; 14 frameshift variants; 4 stop-gained variants; 4 splice-region variants; 2 substitution
- Prediction scores: 609 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: lymphoma, neurodegenerative disease, diffuse large B-cell lymphoma, neoplasm, urinary bladder cancer, ovarian dysfunction, oral cavity carcinoma, retinitis pigmentosa, breast carcinoma, breast cancer, Progressive cone dystrophy, hepatocellular carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 7 binding sites; 1 post-translational modification sites.
- Structural context: 589 variants have structural context.
- PTM context: 1 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable GNA13 variants
Examples include A2V, P6L, P6S, S7*, S7L, R8G, R8L, R8W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2V (p.Ala2Val), Ensembl rs1908071705, REVEL 0.52, MetaLR 0.72
- P6L (p.Pro6Leu), TOPMed rs1281059572, gnomAD rs1281059572, REVEL 0.54, MetaLR 0.51
- P6S (p.Pro6Ser), ExAC rs771909520, gnomAD rs771909520, REVEL 0.45, MetaLR 0.55
- S7* (p.Ser7Ter), NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7147, CADD 38.00, Variant assessed as somatic; high impact.
- S7L (p.Ser7Leu), NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7147, MetaLR 0.52, MetaSVM -0.06, Variant assessed as somatic; moderate impact.
- R8G (p.Arg8Gly), gnomAD rs1908070866, REVEL 0.25, MetaLR 0.42, Uncertain significance, not specified
- R8L (p.Arg8Leu), gnomAD rs1450100547, REVEL 0.54, MetaLR 0.54
- R8W (p.Arg8Trp), NCI-TCGA Cosmic COSV7147, REVEL 0.63, MetaLR 0.61, Variant assessed as somatic; moderate impact.
- S9T (p.Ser9Thr), ExAC rs773338310, gnomAD rs773338310, REVEL 0.21, MetaLR 0.44
- L11Q (p.Leu11Gln), TOPMed rs1204451996, gnomAD rs1204451996, REVEL 0.76, MetaLR 0.66
- S12P (p.Ser12Pro), gnomAD rs1484381948, REVEL 0.53, MetaLR 0.47
- V13E (p.Val13Glu), gnomAD rs1394622239, REVEL 0.44, MetaLR 0.48
- V13M (p.Val13Met), TOPMed rs1210500843, gnomAD rs1210500843, REVEL 0.33, MetaLR 0.44
- C14F (p.Cys14Phe), Ensembl rs1908069356, MetaLR 0.52, MetaSVM -0.18
- C14W (p.Cys14Trp), 1000Genomes rs200798977, ExAC rs200798977, gnomAD rs200798977, REVEL 0.77, MetaLR 0.62
- F15L (p.Phe15Leu), TOPMed rs981601204, gnomAD rs981601204, REVEL 0.22, MetaLR 0.27
- P16S (p.Pro16Ser), rs781422742, ExAC rs781422742, REVEL 0.62, MetaLR 0.64, Variant assessed as somatic; moderate impact.
- G17C (p.Gly17Cys), TOPMed rs1421154389, gnomAD rs1421154389, Uncertain significance, not specified
- G17R (p.Gly17Arg), TOPMed rs1421154389, gnomAD rs1421154389, REVEL 0.38, MetaLR 0.52
- G17S (p.Gly17Ser), TOPMed rs1421154389, gnomAD rs1421154389, REVEL 0.24, MetaLR 0.47
- L20R (p.Leu20Arg), TOPMed rs1397367984, gnomAD rs1397367984, REVEL 0.63, MetaLR 0.69
- T21A (p.Thr21Ala), gnomAD rs1365272450, REVEL 0.25, MetaLR 0.40
- T21R (p.Thr21Arg), TOPMed rs1312350789, MetaLR 0.45, MetaSVM -0.19
- S22N (p.Ser22Asn), TOPMed rs1313821721, gnomAD rs1313821721, REVEL 0.18, MetaLR 0.50
- S22T (p.Ser22Thr), TOPMed rs1313821721, gnomAD rs1313821721, REVEL 0.19, MetaLR 0.45
- E24K (p.Glu24Lys), NCI-TCGA Cosmic COSV7147, Variant assessed as somatic; moderate impact.
- A25T (p.Ala25Thr), TOPMed rs949785919, gnomAD rs949785919, REVEL 0.37, MetaLR 0.55
- E26Q (p.Glu26Gln), NCI-TCGA TCGA novel, MetaLR 0.56, MetaSVM -0.08, Variant assessed as somatic; moderate impact.
- Q27* (p.Gln27Ter), NCI-TCGA Cosmic COSV1044, NCI-TCGA Cosmic COSV7147, Variant assessed as somatic; high impact.
- Q28* (p.Gln28Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K30R (p.Lys30Arg), TOPMed rs1055360347, REVEL 0.42, MetaLR 0.54
- K32* (p.Lys32Ter), Ensembl rs1908066620
- K32N (p.Lys32Asn), ESP rs367977246, ExAC rs367977246, gnomAD rs367977246, REVEL 0.61, MetaLR 0.77
- K32R (p.Lys32Arg), gnomAD rs1303102438, REVEL 0.41, MetaLR 0.65
- C37S (p.Cys37Ser), Ensembl rs1908065978
- C37W (p.Cys37Trp), NCI-TCGA Cosmic COSV7147, gnomAD rs1431023781, Variant assessed as somatic; moderate impact.
- C37Y (p.Cys37Tyr), NCI-TCGA TCGA novel, MetaLR 0.60, MetaSVM 0.32, Variant assessed as somatic; moderate impact.
- S39C (p.Ser39Cys), TOPMed rs1908065518
- R40G (p.Arg40Gly), Ensembl rs1225223462
- E41* (p.Glu41Ter), NCI-TCGA Cosmic COSV1014, Variant assessed as somatic; high impact.
- E41G (p.Glu41Gly), TOPMed rs1278971927
- E41K (p.Glu41Lys), NCI-TCGA Cosmic COSV1014, Variant assessed as somatic; moderate impact.
- K42N (p.Lys42Asn), NCI-TCGA Cosmic COSV7147, MetaLR 0.74, MetaSVM 0.34, Variant assessed as somatic; moderate impact.
- T43I (p.Thr43Ile), TOPMed rs937598382, gnomAD rs937598382, REVEL 0.46, MetaLR 0.66
- Y44C (p.Tyr44Cys), 1000Genomes rs201316886, TOPMed rs201316886, gnomAD rs201316886
- Y44F (p.Tyr44Phe), 1000Genomes rs201316886, TOPMed rs201316886, gnomAD rs201316886, MetaLR 0.51, MetaSVM -0.37
- Y44S (p.Tyr44Ser), 1000Genomes rs201316886, TOPMed rs201316886, gnomAD rs201316886, REVEL 0.37, MetaLR 0.53
- K46* (p.Lys46Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K46N (p.Lys46Asn), NCI-TCGA Cosmic COSV7147, MetaLR 0.64, MetaSVM 0.07, Variant assessed as somatic; moderate impact.
- R47L (p.Arg47Leu), Ensembl rs866627710
- R47W (p.Arg47Trp), ExAC rs753352986, gnomAD rs753352986, REVEL 0.65, MetaLR 0.82
- L48M (p.Leu48Met), ExAC rs763855583, gnomAD rs763855583
- L48V (p.Leu48Val), ExAC rs763855583, gnomAD rs763855583, REVEL 0.33, MetaLR 0.63
- V49G (p.Val49Gly), ExAC rs78590636, gnomAD rs78590636, REVEL 0.59, MetaLR 0.87
- K50* (p.Lys50Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K50E (p.Lys50Glu), ExAC rs752503576
- I51M (p.Ile51Met), ExAC rs767330120, gnomAD rs767330120, REVEL 0.53, MetaLR 0.67
- L53V (p.Leu53Val), Ensembl rs1365454205
- A56S (p.Ala56Ser), gnomAD rs1323009379, REVEL 0.59, MetaLR 0.67
- E58K (p.Glu58Lys), NCI-TCGA Cosmic COSV7147, Variant assessed as somatic; moderate impact.
- S59C (p.Ser59Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G60D (p.Gly60Asp), NCI-TCGA Cosmic COSV1014, MetaLR 0.99, MetaSVM 1.07, Variant assessed as somatic; moderate impact.
- K61N (p.Lys61Asn), NCI-TCGA Cosmic COSV7147, MetaLR 0.96, MetaSVM 1.02, Variant assessed as somatic; moderate impact.
- L65V (p.Leu65Val), gnomAD rs368009337
- Q67* (p.Gln67Ter), Ensembl rs1908061539
- Q67H (p.Gln67His), gnomAD rs1908061421, REVEL 0.83, MetaLR 0.91
- I70F (p.Ile70Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G73R (p.Gly73Arg), Ensembl rs1598505876, REVEL 0.75, MetaLR 0.82
- G73W (p.Gly73Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q74P (p.Gln74Pro), Ensembl rs374873980
- D75E (p.Asp75Glu), ExAC rs766263530, gnomAD rs766263530, REVEL 0.36, MetaLR 0.53
- D75H (p.Asp75His), 1000Genomes rs547541013, TOPMed rs547541013, REVEL 0.60, MetaLR 0.77
- D75N (p.Asp75Asn), 1000Genomes rs547541013, TOPMed rs547541013, MetaLR 0.53, MetaSVM -0.18
- F76L (p.Phe76Leu), gnomAD rs1365451156, REVEL 0.61, MetaLR 0.69
- D77A (p.Asp77Ala), gnomAD rs1162010335, REVEL 0.71, MetaLR 0.76
- D77H (p.Asp77His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q78* (p.Gln78Ter), TOPMed rs1908060247, CADD 38.00
- Q78R (p.Gln78Arg), Ensembl rs1598505850, REVEL 0.19, MetaLR 0.43, Uncertain significance, not specified
- R79H (p.Arg79His), Ensembl rs1908060044, MetaLR 0.47, MetaSVM -0.37
- E82Q (p.Glu82Gln), gnomAD rs1369137082, REVEL 0.32, MetaLR 0.67
- E83D (p.Glu83Asp), Ensembl rs1390831911, MetaLR 0.44, MetaSVM -0.45
- E83Q (p.Glu83Gln), NCI-TCGA Cosmic COSV1014, gnomAD rs1908059424, REVEL 0.43, MetaLR 0.44, Variant assessed as somatic; moderate impact.
- F84C (p.Phe84Cys), gnomAD rs1471769938, REVEL 0.88, MetaLR 0.80
- T87A (p.Thr87Ala), Ensembl rs1908059001, REVEL 0.48, MetaLR 0.72
- T87I (p.Thr87Ile), gnomAD rs1409446714, REVEL 0.47, MetaLR 0.61
- T87S (p.Thr87Ser), Ensembl rs1908059001, MetaLR 0.76, MetaSVM 0.68
- I88M (p.Ile88Met), gnomAD rs1184024197, REVEL 0.70, MetaLR 0.82
- I88V (p.Ile88Val), TOPMed rs1463556900, gnomAD rs1463556900, REVEL 0.33, MetaLR 0.55
- Y89C (p.Tyr89Cys), ExAC rs776632322, TOPMed rs776632322, gnomAD rs776632322, REVEL 0.61, MetaLR 0.77, Uncertain significance, not specified
- S90C (p.Ser90Cys), ExAC rs768761767, gnomAD rs768761767, REVEL 0.61, MetaLR 0.76
- I93L (p.Ile93Leu), rs1489167591, ClinGen CA400663187, ClinVar RCV004395423, gnomAD rs1489167591, REVEL 0.25, MetaLR 0.46, Uncertain significance, not specified
- K94T (p.Lys94Thr), 1000Genomes rs527869765, ExAC rs527869765, gnomAD rs527869765, REVEL 0.72, MetaLR 0.66
- G95G (p.Gly95Gly), rs1907938705, gnomAD 17-65053727-A-C, CADD 16.10
- G95D (p.Gly95Asp), gnomAD 17-65053728-C-T, REVEL 0.80, MetaLR 0.79
- M96V (p.Met96Val), NCI-TCGA Cosmic COSV7147, cosmic curated COSV71474, MetaLR 0.46, MetaSVM -0.49, Variant assessed as somatic; moderate impact.
- R97K (p.Arg97Lys), gnomAD 17-65053722-C-T, REVEL 0.68, MetaLR 0.52
- V98L (p.Val98Leu), NCI-TCGA Cosmic COSV7147, cosmic curated COSV71474, Variant assessed as somatic; moderate impact.
- V98M (p.Val98Met), gnomAD rs1441524682, REVEL 0.84, MetaLR 0.81
- V98V (p.Val98Val), gnomAD 17-65053718-C-T, CADD 9.53
- L99V (p.Leu99Val), gnomAD rs1907938446, REVEL 0.61, MetaLR 0.69
- L99L (p.Leu99Leu), rs375975490, gnomAD 17-65053715-C-T, CADD 12.30
- V100A (p.Val100Ala), Ensembl rs1598503863, REVEL 0.81, MetaLR 0.61
- V100F (p.Val100Phe), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10145, Variant assessed as somatic; moderate impact.
- A102A (p.Ala102Ala), rs75732860, gnomAD 17-65053706-A-T, CADD 7.46
- R103* (p.Arg103Ter), rs755620237, NCI-TCGA Cosmic COSV7147, cosmic curated COSV71475, ExAC rs755620237, CADD 36.00, Variant assessed as somatic; high impact.
- R103G (p.Arg103Gly), ExAC rs755620237, gnomAD rs755620237, REVEL 0.79, MetaLR 0.78
- R103L (p.Arg103Leu), ESP rs200512437, ExAC rs200512437, TOPMed rs200512437, gnomAD rs200512437, REVEL 0.85, MetaLR 0.60
- R103Q (p.Arg103Gln), ESP rs200512437, ExAC rs200512437, TOPMed rs200512437, gnomAD rs200512437, REVEL 0.80, MetaLR 0.60
- R103R (p.Arg103Arg), rs755620237, gnomAD 17-65053705-G-T, CADD 11.80
- K105K (p.Lys105Lys), gnomAD 17-65053697-C-T, CADD 10.80
- K105R (p.Lys105Arg), gnomAD 17-65053698-T-C, REVEL 0.52, MetaLR 0.63
- L106I (p.Leu106Ile), gnomAD 17-65053696-G-T, REVEL 0.79, MetaLR 0.77
- H107R (p.His107Arg), cosmic curated COSV71474, 1000Genomes rs200421130, ExAC rs200421130, TOPMed rs200421130, REVEL 0.60, MetaLR 0.48
- H107H (p.His107His), gnomAD 17-65053691-A-G, CADD 8.82
- I108T (p.Ile108Thr), TOPMed rs1367435540, gnomAD rs1367435540, REVEL 0.94, MetaLR 0.84
- I108L (p.Ile108Leu), gnomAD 17-65053690-T-G, REVEL 0.67, MetaLR 0.67
- P109L (p.Pro109Leu), ESP rs377750035, TOPMed rs377750035, REVEL 0.66, MetaLR 0.84
- P109S (p.Pro109Ser), ExAC rs754564812, gnomAD rs754564812, REVEL 0.55, MetaLR 0.73
- P109P (p.Pro109Pro), gnomAD 17-65053685-G-A, CADD 8.85
- P109T (p.Pro109Thr), gnomAD 17-65053687-G-T, REVEL 0.63, MetaLR 0.76
- W110R (p.Trp110Arg), gnomAD 17-65053684-A-G, REVEL 0.83, MetaLR 0.57
- G111E (p.Gly111Glu), gnomAD rs1447546663, REVEL 0.59, MetaLR 0.58
- G111R (p.Gly111Arg), gnomAD rs1907936480, REVEL 0.72, MetaLR 0.81
- G111V (p.Gly111Val), NCI-TCGA TCGA novel, MetaLR 0.75, MetaSVM 0.53, Variant assessed as somatic; moderate impact.
- D112G (p.Asp112Gly), TOPMed rs1048905622, gnomAD rs1048905622, REVEL 0.43, MetaLR 0.64
- D112N (p.Asp112Asn), gnomAD 17-65053678-C-T, REVEL 0.35, MetaLR 0.36
- N113Y (p.Asn113Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N113K (p.Asn113Lys), gnomAD 17-65053673-G-C, REVEL 0.19, MetaLR 0.29
- N113N (p.Asn113Asn), rs1338876727, gnomAD 17-65053673-G-A, CADD 3.70
- S114L (p.Ser114Leu), TOPMed rs939582792, gnomAD rs939582792, REVEL 0.22, MetaLR 0.50
- S114S (p.Ser114Ser), gnomAD 17-65053670-T-G, CADD 9.91
- N115D (p.Asn115Asp), TOPMed rs1278568436, REVEL 0.73, MetaLR 0.81
- N115H (p.Asn115His), TOPMed rs1278568436, REVEL 0.69, MetaLR 0.79
- N115K (p.Asn115Lys), Ensembl rs1907935539, REVEL 0.58, MetaLR 0.76
- Q116Q (p.Gln116Gln), gnomAD 17-65053664-T-C, CADD 1.89
- Q116E (p.Gln116Glu), gnomAD 17-65053666-G-C, REVEL 0.38, MetaLR 0.61
- Q117L (p.Gln117Leu), gnomAD 17-65053662-T-A, REVEL 0.21, MetaLR 0.49
- H118R (p.His118Arg), TOPMed rs1907935418, MetaLR 0.46, MetaSVM -0.19
- H118H (p.His118His), rs2143833688, gnomAD 17-65053658-A-G, CADD 6.28
- D120E (p.Asp120Glu), gnomAD 17-65053652-A-T, REVEL 0.19, MetaLR 0.34
- D120N (p.Asp120Asn), gnomAD 17-65053654-C-T, REVEL 0.33, MetaLR 0.62
- K121N (p.Lys121Asn), NCI-TCGA Cosmic COSV7147, cosmic curated COSV71474, MetaLR 0.41, MetaSVM -0.49, Variant assessed as somatic; moderate impact.
- K121K (p.Lys121Lys), rs751359082, gnomAD 17-65053649-C-T, CADD 9.82
- K121E (p.Lys121Glu), gnomAD 17-65053651-T-C, REVEL 0.18, MetaLR 0.43
- M122I (p.Met122Ile), NCI-TCGA Cosmic COSV7147, cosmic curated COSV71474, REVEL 0.39, MetaLR 0.33, Variant assessed as somatic; moderate impact.
- M123L (p.Met123Leu), gnomAD rs1375850154, REVEL 0.62, MetaLR 0.58
- S124C (p.Ser124Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S124L (p.Ser124Leu), rs1167868480, ClinGen CA400662257, ClinVar RCV004116202, TOPMed rs1167868480, REVEL 0.34, MetaLR 0.57, Uncertain significance, not specified
- S124W (p.Ser124Trp), TOPMed rs1167868480, gnomAD rs1167868480, REVEL 0.61, MetaLR 0.81, Uncertain significance
- S124S (p.Ser124Ser), rs145081453, gnomAD 17-65053640-C-T, CADD 0.71
- F125C (p.Phe125Cys), NCI-TCGA TCGA novel, MetaLR 0.76, MetaSVM 0.56, Variant assessed as somatic; moderate impact.
- F125I (p.Phe125Ile), gnomAD 17-65053639-A-T, REVEL 0.45, MetaLR 0.42
- D126N (p.Asp126Asn), gnomAD 17-65053636-C-T, REVEL 0.41, MetaLR 0.74
- T127T (p.Thr127Thr), gnomAD 17-65053631-G-T, CADD 5.41
- T127I (p.Thr127Ile), gnomAD 17-65053632-G-A, REVEL 0.58, MetaLR 0.73
- T127S (p.Thr127Ser), gnomAD 17-65053633-T-A, REVEL 0.40, MetaLR 0.60
- R128L (p.Arg128Leu), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10145, MetaLR 0.70, MetaSVM 0.47, Variant assessed as somatic; moderate impact.
- R128Q (p.Arg128Gln), TOPMed rs1322265190, REVEL 0.45, MetaLR 0.66
- R128W (p.Arg128Trp), gnomAD 17-65053630-G-A, REVEL 0.59, MetaLR 0.84
- A129P (p.Ala129Pro), TOPMed rs1223124647
- A129A (p.Ala129Ala), gnomAD 17-65053625-G-A, CADD 7.36
- P130S (p.Pro130Ser), TOPMed rs1907934183, MetaLR 0.41, MetaSVM -0.61
- P130P (p.Pro130Pro), rs373182533, gnomAD 17-65053622-G-A, CADD 9.72
- P130L (p.Pro130Leu), gnomAD 17-65053623-G-A, REVEL 0.28, MetaLR 0.43
- P130A (p.Pro130Ala), gnomAD 17-65053624-G-C, REVEL 0.22, MetaLR 0.30
- M131L (p.Met131Leu), ExAC rs750335472, gnomAD rs750335472, MetaLR 0.54, MetaSVM -0.66
- M131T (p.Met131Thr), ExAC rs765048472, gnomAD rs765048472, REVEL 0.23, MetaLR 0.50
- M131V (p.Met131Val), ExAC rs750335472, gnomAD rs750335472, REVEL 0.27, MetaLR 0.42
- A132T (p.Ala132Thr), cosmic curated COSV71474, Ensembl rs1567829626, REVEL 0.29, MetaLR 0.51
- A132A (p.Ala132Ala), gnomAD 17-65053616-T-C, CADD 9.31
- A132G (p.Ala132Gly), gnomAD 17-65053617-G-C, REVEL 0.22, MetaLR 0.53
- A133A (p.Ala133Ala), rs899948127, gnomAD 17-65053613-G-A, CADD 11.70
- Q134H (p.Gln134His), 1000Genomes rs201253039, ExAC rs201253039, TOPMed rs201253039, gnomAD rs201253039, REVEL 0.29, MetaLR 0.57, Uncertain significance, not specified
- Q134Q (p.Gln134Gln), rs201253039, gnomAD 17-65053610-T-C, CADD 11.20
- G135E (p.Gly135Glu), NCI-TCGA Cosmic COSV7147, cosmic curated COSV71474, Variant assessed as somatic; moderate impact.
- M136V (p.Met136Val), Ensembl rs1907933322, REVEL 0.25, MetaLR 0.45
- M136I (p.Met136Ile), gnomAD 17-65053604-C-T, REVEL 0.17, MetaLR 0.55
- V137M (p.Val137Met), rs1443341189, ClinGen CA400662176, ClinVar RCV004263425, TOPMed rs1443341189, REVEL 0.38, MetaLR 0.59, Uncertain significance, not specified
- E138Q (p.Glu138Gln), rs141288232, ClinGen CA8717360, cosmic curated COSV10583, ClinVar RCV004180909, REVEL 0.66, MetaLR 0.86, Uncertain significance, not specified
- E138K (p.Glu138Lys), gnomAD 17-65053600-C-T, REVEL 0.69, MetaLR 0.85
Public GNA13 analysis runs
- GNA13 analysis run — GNA13 (641 variants) — completed 2026-08-19