SERPINA1 (Alpha-1-antitrypsin) variants and mutations
SERPINA1 (also known as Alpha-1-antitrypsin) is a human protein-coding gene encoding an alpha-1-antitrypsin protein. Its circulating alpha-1-antitrypsin activity protects lung tissue by neutralizing neutrophil elastase and related proteases. Severe deficiency predisposes to early emphysema, while accumulation of misfolded protein in hepatocytes can cause chronic liver disease. This analysis covers 951 SERPINA1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Alpha-1-antitrypsin deficiency, chronic obstructive pulmonary disease, and alpha 1-antitrypsin deficiency. Example SERPINA1 variants include M1V, P2A, and P2L.
Variant analysis overview
- Gene: SERPINA1
- Protein: Alpha-1-antitrypsin
- UniProt accession: P01009
- Organism: Homo sapiens
- Variants analyzed: 951
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 676 unspecified-consequence records; 6 stop-gained variants; 96 missense variants; 113 synonymous variants; 9 in-frame deletions; 37 frameshift variants; 4 splice-region variants; 2 stop lost; 1 stop retained variant; 5 in-frame insertions; 2 substitution
- Prediction scores: 752 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Alpha-1-antitrypsin deficiency, chronic obstructive pulmonary disease, alpha 1-antitrypsin deficiency, cholelithiasis, pulmonary emphysema, cirrhosis of liver, coronary artery disorder, Abnormality of the skeletal system, liver disorder, gallstones, cardiovascular disorder, osteoarthritis, knee.
Protein structure and variant hotspots
- Protein features: 6 post-translational modification sites.
- PTM context: 11 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, ClinGen, MaveDB, LitVar.
Notable SERPINA1 variants
Examples include M1V, P2A, P2L, P2Q, P2S, S3C, S3F, S3Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs1057516555, ClinGen CA16041711, ClinVar RCV000411735, MetaLR 0.77, MetaSVM 0.58, Likely pathogenic, Alpha-1-antitrypsin deficiency
- P2A (p.Pro2Ala), NCI-TCGA Cosmic COSV6334, cosmic curated COSV63346, Variant assessed as somatic; moderate impact.
- P2L (p.Pro2Leu), ESP rs142288916, ExAC rs142288916, TOPMed rs142288916, gnomAD rs142288916, REVEL 0.26, CADD 19.00
- P2Q (p.Pro2Gln), cosmic curated COSV63346, REVEL 0.34, CADD 19.30
- P2S (p.Pro2Ser), ExAC rs757174326, gnomAD rs757174326, REVEL 0.36, CADD 1.02
- S3C (p.Ser3Cys), ExAC rs759598955, TOPMed rs759598955, gnomAD rs759598955, REVEL 0.32, CADD 23.30
- S3F (p.Ser3Phe), ExAC rs759598955, TOPMed rs759598955, gnomAD rs759598955, REVEL 0.36, CADD 18.30
- S3Y (p.Ser3Tyr), ExAC rs759598955, TOPMed rs759598955, gnomAD rs759598955, REVEL 0.34, CADD 22.90
- S4F (p.Ser4Phe), Ensembl rs1484441543
- S4P (p.Ser4Pro), TOPMed rs1259380442, REVEL 0.47, CADD 20.60
- V5A (p.Val5Ala), TOPMed rs1897084348
- V5F (p.Val5Phe), ExAC rs776904334, TOPMed rs776904334, gnomAD rs776904334
- V5I (p.Val5Ile), ExAC rs776904334, TOPMed rs776904334, gnomAD rs776904334, REVEL 0.24, CADD 0.05
- S6L (p.Ser6Leu), rs140814100, ClinGen CA127682, cosmic curated COSV63345, ClinVar RCV000019570, REVEL 0.58, CADD 18.10, Uncertain significance, not provided; Alpha-1-antitrypsin deficiency
- W7* (p.Trp7Ter), rs370038282, ClinGen CA16041710, ClinVar RCV000411794, ESP rs370038282, CADD 33.00, Likely pathogenic
- W7C (p.Trp7Cys), ESP rs370038282, ExAC rs370038282, gnomAD rs370038282, REVEL 0.36, CADD 18.00, Likely pathogenic
- W7L (p.Trp7Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G8D (p.Gly8Asp), ExAC rs773588978, TOPMed rs773588978, gnomAD rs773588978, REVEL 0.44, CADD 20.50, Uncertain significance, Alpha-1-antitrypsin deficiency
- G8S (p.Gly8Ser), TOPMed rs1410013401, gnomAD rs1410013401, REVEL 0.38, CADD 14.20
- G8V (p.Gly8Val), ExAC rs773588978, TOPMed rs773588978, gnomAD rs773588978, REVEL 0.35, CADD 15.80
- I9N (p.Ile9Asn), gnomAD rs1296175763, REVEL 0.45, CADD 23.20
- L12M (p.Leu12Met), ESP rs377747242, ExAC rs377747242, gnomAD rs377747242
- L12P (p.Leu12Pro), rs1566759056, ClinVar RCV000768543, TOPMed rs1566759056, gnomAD rs1566759056, REVEL 0.78, CADD 26.30, no classification for the single variant, Alpha-1-antitrypsin deficiency
- G14D (p.Gly14Asp), cosmic curated COSV63346, REVEL 0.59, CADD 23.10, Uncertain significance, SERPINA1-related disorder
- G14S (p.Gly14Ser), TOPMed rs1897081099, REVEL 0.49, CADD 22.60
- G14V (p.Gly14Val), rs768352001, ClinGen CA7327564, ClinVar RCV000730134, ExAC rs768352001, REVEL 0.59, CADD 22.80, Uncertain significance, not provided
- L15R (p.Leu15Arg), cosmic curated COSV10087
- C16R (p.Cys16Arg), gnomAD rs1473667365, REVEL 0.60, CADD 23.10
- C17F (p.Cys17Phe), TOPMed rs1176919060, gnomAD rs1176919060, REVEL 0.49, CADD 14.20
- C17R (p.Cys17Arg), TOPMed rs1250083377, gnomAD rs1250083377, REVEL 0.61, CADD 22.50, Uncertain significance, Inborn genetic diseases
- C17Y (p.Cys17Tyr), TOPMed rs1176919060, gnomAD rs1176919060
- V19I (p.Val19Ile), ExAC rs780969205, gnomAD rs780969205, REVEL 0.24, CADD 5.34
- P20H (p.Pro20His), cosmic curated COSV10087
- P20L (p.Pro20Leu), Ensembl rs1897078339, REVEL 0.29, CADD 12.00
- P20T (p.Pro20Thr), Ensembl rs1595615236, REVEL 0.28, CADD 7.20
- V21A (p.Val21Ala), TOPMed rs1897077671, REVEL 0.32, CADD 3.42
- V21I (p.Val21Ile), NCI-TCGA TCGA novel, REVEL 0.25, CADD 0.00, Variant assessed as somatic; moderate impact.
- V21L (p.Val21Leu), Ensembl rs1448214480, REVEL 0.32, CADD 0.00
- S22F (p.Ser22Phe), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- S22T (p.Ser22Thr), ExAC rs751555333
- L23Q (p.Leu23Gln), TOPMed rs1379209512, gnomAD rs1379209512, REVEL 0.46, CADD 16.20
- A24S (p.Ala24Ser), ExAC rs755088914, gnomAD rs755088914, REVEL 0.38, CADD 20.60
- A24V (p.Ala24Val), ExAC rs753867893, TOPMed rs753867893, gnomAD rs753867893, REVEL 0.25, CADD 14.70
- E25K (p.Glu25Lys), rs766542592, ClinGen CA7327553, ClinVar RCV000728979, ExAC rs766542592, REVEL 0.39, CADD 0.75, Uncertain significance, not provided
- D26A (p.Asp26Ala), rs199422212, ClinGen CA127719, ClinVar RCV000019593, ClinVar RCV000512626, AlphaMissense 0.09, MetaLR 0.48, Benign; other, Alpha-1-antitrypsin deficiency; PI V(MUNICH)
- D26N (p.Asp26Asn), ExAC rs750766974, TOPMed rs750766974, gnomAD rs750766974, REVEL 0.24, CADD 16.00
- D26V (p.Asp26Val), TOPMed rs199422212, gnomAD rs199422212, REVEL 0.40, AlphaMissense 0.09, Benign, in V-Munich
- D26Y (p.Asp26Tyr), ExAC rs750766974, TOPMed rs750766974, gnomAD rs750766974, REVEL 0.32, CADD 21.30
- P27L (p.Pro27Leu), rs190231439, ClinGen CA7327549, cosmic curated COSV10591, ClinVar RCV000731401, REVEL 0.32, CADD 5.01, Uncertain significance, not provided
- P27S (p.Pro27Ser), ExAC rs767986567, gnomAD rs767986567, REVEL 0.24, CADD 0.30
- P27T (p.Pro27Thr), ExAC rs767986567, gnomAD rs767986567
- Q28R (p.Gln28Arg), Ensembl rs11558259
- G29A (p.Gly29Ala), cosmic curated COSV10818
- G29E (p.Gly29Glu), cosmic curated COSV10650, REVEL 0.37, CADD 12.20
- G29R (p.Gly29Arg), cosmic curated COSV63345, REVEL 0.40, CADD 15.10
- D30N (p.Asp30Asn), gnomAD rs1321237081
- D30V (p.Asp30Val), rs864622048, ClinGen CA348584, ClinVar RCV000204334, Ensembl rs864622048, REVEL 0.44, CADD 6.53, Likely benign, Alpha-1-antitrypsin deficiency
- A31G (p.Ala31Gly), TOPMed rs1897073335, gnomAD rs1897073335, REVEL 0.28, CADD 12.30
- A31P (p.Ala31Pro), TOPMed rs1897073566
- K34N (p.Lys34Asn), rs864622049, ClinGen CA349194, ClinVar RCV000205031, TOPMed rs864622049, REVEL 0.15, CADD 5.93, Likely benign, Alpha-1-antitrypsin deficiency
- K34Q (p.Lys34Gln), rs769267062, ClinGen CA7327547, ClinVar RCV003480096, ExAC rs769267062, REVEL 0.18, CADD 12.70, Uncertain significance, not provided
- K34R (p.Lys34Arg), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- T35A (p.Thr35Ala), TOPMed rs1374116152, gnomAD rs1374116152, REVEL 0.42, CADD 7.40
- T35R (p.Thr35Arg), Ensembl rs1897071939
- D36V (p.Asp36Val), gnomAD rs1158625562, REVEL 0.41, CADD 14.40
- T37A (p.Thr37Ala), rs11558262, UniProt VAR 051938, Ensembl rs11558262, AlphaMissense 0.06, MetaLR 0.30
- S38F (p.Ser38Phe), rs745463238, ClinGen CA7327543, ClinVar RCV001815769, ClinVar RCV002482346, REVEL 0.33, CADD 17.90, Uncertain significance, not provided; Alpha-1-antitrypsin deficiency
- S38T (p.Ser38Thr), ExAC rs769331986, gnomAD rs769331986, REVEL 0.30, CADD 0.04
- H39L (p.His39Leu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- H39N (p.His39Asn), rs138070585, ClinGen CA7327542, ClinVar RCV000671556, ESP rs138070585, REVEL 0.29, CADD 0.04, Likely pathogenic, Alpha-1-antitrypsin deficiency
- H39Y (p.His39Tyr), rs138070585, ClinGen CA390850758, ClinVar RCV003982564, REVEL 0.28, CADD 1.04, Uncertain significance, SERPINA1-related disorder
- H40R (p.His40Arg), 1000Genomes rs186478039, ExAC rs186478039, TOPMed rs186478039, gnomAD rs186478039, REVEL 0.44, CADD 10.20
- D41V (p.Asp41Val), cosmic curated COSV10969
- D43A (p.Asp43Ala), Ensembl rs1897069375, REVEL 0.28, CADD 11.60
- D43E (p.Asp43Glu), ExAC rs752646694, gnomAD rs752646694, REVEL 0.26, CADD 0.01
- D43N (p.Asp43Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D43Y (p.Asp43Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H44Q (p.His44Gln), gnomAD rs1214596628, REVEL 0.29, CADD 5.01
- P45L (p.Pro45Leu), ExAC rs758293405, gnomAD rs758293405, REVEL 0.27, CADD 1.99
- P45T (p.Pro45Thr), TOPMed rs1322087241
- T46A (p.Thr46Ala), rs1243707738, ClinGen CA390850708, ClinVar RCV002668416, TOPMed rs1243707738, REVEL 0.22, CADD 0.07, Likely benign, Inborn genetic diseases
- T46N (p.Thr46Asn), gnomAD rs1381869222, REVEL 0.19, CADD 7.46
- F47I (p.Phe47Ile), cosmic curated COSV63345
- F47L (p.Phe47Leu), Ensembl rs764792979
- I50L (p.Ile50Leu), TOPMed rs963967922, gnomAD rs963967922, REVEL 0.38, CADD 9.90
- I50V (p.Ile50Val), TOPMed rs963967922, gnomAD rs963967922, REVEL 0.30, CADD 6.74
- I50N (p.Ile50Asn), rs963967922, []
- T51I (p.Thr51Ile), NCI-TCGA Cosmic COSV6334, cosmic curated COSV63346, REVEL 0.32, CADD 12.10, Variant assessed as somatic; moderate impact.
- T51P (p.Thr51Pro), Ensembl rs1595614696
- P52A (p.Pro52Ala), TOPMed rs1897065615
- P52L (p.Pro52Leu), rs944607375, ClinGen CA265864194, ClinVar RCV003472653, TOPMed rs944607375, REVEL 0.39, CADD 17.20, Likely pathogenic, Alpha-1-antitrypsin deficiency
- P52R (p.Pro52Arg), TOPMed rs944607375, gnomAD rs944607375, REVEL 0.34, CADD 16.30, Likely pathogenic
- N53I (p.Asn53Ile), TOPMed rs758914650, gnomAD rs758914650
- N53S (p.Asn53Ser), TOPMed rs758914650, gnomAD rs758914650, REVEL 0.27, CADD 0.27
- A55P (p.Ala55Pro), ExAC rs753921311, TOPMed rs753921311, gnomAD rs753921311, REVEL 0.61, CADD 21.80
- A55T (p.Ala55Thr), ExAC rs753921311, TOPMed rs753921311, gnomAD rs753921311, REVEL 0.28, CADD 12.80
- F57L (p.Phe57Leu), 1000Genomes rs150784949, ESP rs150784949, ExAC rs150784949, TOPMed rs150784949, REVEL 0.61, CADD 3.06, Likely pathogenic, Alpha-1-antitrypsin deficiency
- A58G (p.Ala58Gly), TOPMed rs770667932
- A58S (p.Ala58Ser), ESP rs149319176, ExAC rs149319176, TOPMed rs149319176, gnomAD rs149319176, REVEL 0.45, CADD 7.85, Uncertain significance, in M5-Karlsruhe
- A58T (p.Ala58Thr), rs149319176, cosmic curated COSV10087, UniProt VAR 006980, ESP rs149319176, REVEL 0.45, CADD 9.06, Uncertain significance, SERPINA1-related disorder
- A58V (p.Ala58Val), TOPMed rs770667932
- F59C (p.Phe59Cys), TOPMed rs1161984475, gnomAD rs1161984475
- S60G (p.Ser60Gly), ExAC rs767606257, gnomAD rs767606257
- S60R (p.Ser60Arg), rs864622045, ClinGen CA349449, ClinVar RCV000205278, Ensembl rs864622045, REVEL 0.31, CADD 5.02, Likely benign, Alpha-1-antitrypsin deficiency
- Y62* (p.Tyr62Ter), rs762321137, ClinGen CA7327531, ClinVar RCV000409474, ExAC rs762321137, CADD 36.00, Likely pathogenic
- R63C (p.Arg63Cys), rs28931570, ClinGen CA325650, cosmic curated COSV63345, ClinVar RCV000019575, REVEL 0.69, CADD 25.90, Pathogenic, not provided; Alpha-1-antitrypsin deficiency
- R63G (p.Arg63Gly), rs28931570, ClinGen CA390850601, ClinVar RCV002261498, 1000Genomes rs28931570, REVEL 0.64, CADD 24.70, Uncertain significance, not provided
- R63H (p.Arg63His), ExAC rs764726147, TOPMed rs764726147, gnomAD rs764726147, REVEL 0.38, CADD 12.50, Likely benign, in A1ATD
- R63L (p.Arg63Leu), rs764726147, ClinGen CA348069, ClinVar RCV000203791, ExAC rs764726147, REVEL 0.62, CADD 21.40, Likely benign, Alpha-1-antitrypsin deficiency
- Q64K (p.Gln64Lys), rs1555369198, ClinVar RCV000508836, TOPMed rs1555369198, REVEL 0.26, CADD 3.94, no classification for the single variant, Alpha-1-antitrypsin deficiency
- Q64R (p.Gln64Arg), ExAC rs763483402, gnomAD rs763483402, REVEL 0.31, CADD 6.73
- L65P (p.Leu65Pro), rs28931569, ClinGen CA127686, ClinVar RCV000019571, ClinVar RCV000201848, REVEL 0.63, CADD 20.50, Pathogenic/Likely pathogenic, not provided; Alpha-1-antitrypsin deficiency; See cases
- A66T (p.Ala66Thr), gnomAD rs1897058574, REVEL 0.30, CADD 15.30
- A66V (p.Ala66Val), ExAC rs769400992, TOPMed rs769400992, gnomAD rs769400992, REVEL 0.37, CADD 14.90
- H67N (p.His67Asn), rs864622050, ClinGen CA350201, cosmic curated COSV63345, ClinVar RCV000206131, AlphaMissense 0.07, MetaLR 0.32, Likely benign, Alpha-1-antitrypsin deficiency
- H67Q (p.His67Gln), rs140744031, ClinGen CA7327527, ClinVar RCV002121094, ESP rs140744031, REVEL 0.26, CADD 0.74, Likely benign, Alpha-1-antitrypsin deficiency
- H67R (p.His67Arg), TOPMed rs1897057638
- S69F (p.Ser69Phe), rs199687431, ClinGen CA7327526, ClinVar RCV000353319, ClinVar RCV000734913, REVEL 0.40, CADD 25.10, Uncertain significance, Alpha-1-antitrypsin deficiency; not provided
- S69Y (p.Ser69Tyr), cosmic curated COSV63345, ESP rs199687431, ExAC rs199687431, TOPMed rs199687431, REVEL 0.46, CADD 24.70, Uncertain significance, in M6-Bonn
- S71R (p.Ser71Arg), TOPMed rs1393875655, gnomAD rs1393875655, REVEL 0.17, CADD 19.10, Likely benign, Alpha-1-antitrypsin deficiency
- I74N (p.Ile74Asn), rs1275309068, ClinGen CA390850531, ClinVar RCV003402971, gnomAD rs1275309068, REVEL 0.87, CADD 27.30, Likely pathogenic, SERPINA1-related disorder
- F75I (p.Phe75Ile), cosmic curated COSV63345
- F75L (p.Phe75Leu), rs1230465323, NCI-TCGA Cosmic COSV6334, cosmic curated COSV63345, TOPMed rs1230465323, REVEL 0.54, CADD 22.70, Variant assessed as somatic; moderate impact., in A1ATD
- F75S (p.Phe75Ser), ESP rs369966794
- F76L (p.Phe76Leu), gnomAD rs1458111327, REVEL 0.62, CADD 23.80
- F76S (p.Phe76Ser), rs1555369172, ClinGen CA390850516, ClinVar RCV000512628, Ensembl rs1555369172, REVEL 0.93, CADD 32.00, Pathogenic, Alpha-1-antitrypsin deficiency
- S77F (p.Ser77Phe), rs55819880, ClinGen CA127738, ClinVar RCV000019608, ClinVar RCV000169508, REVEL 0.97, CADD 31.00, Pathogenic; other, Alpha-1-antitrypsin deficiency; PI S(IIYAMA)
- V79E (p.Val79Glu), rs864622047, ClinGen CA349078, ClinVar RCV000204890, gnomAD rs864622047, REVEL 0.76, CADD 28.60, Uncertain significance, Alpha-1-antitrypsin deficiency
- V79L (p.Val79Leu), TOPMed rs1595614180, gnomAD rs1595614180
- S80N (p.Ser80Asn), ExAC rs777478364, gnomAD rs777478364, REVEL 0.63, CADD 25.40
- I81V (p.Ile81Val), rs1897053025, ClinGen CA390850488, ClinVar RCV002858931, TOPMed rs1897053025, AlphaMissense 0.08, MetaLR 0.67, Uncertain significance, Inborn genetic diseases
- A82P (p.Ala82Pro), rs113817720, ClinGen CA390850482, ClinVar RCV000768537, ExAC rs113817720, AlphaMissense 0.15, MetaLR 0.47, Pathogenic, Alpha-1-antitrypsin deficiency
- A82T (p.Ala82Thr), rs113817720, ClinGen CA7327522, cosmic curated COSV63345, ClinVar RCV000728194, REVEL 0.27, AlphaMissense 0.15, Conflicting interpretations, not provided; Alpha-1-antitrypsin deficiency
- T83R (p.Thr83Arg), gnomAD rs1371527797
- A84S (p.Ala84Ser), cosmic curated COSV63345
- A84T (p.Ala84Thr), rs111850950, ClinGen CA7327521, ClinVar RCV000594503, ClinVar RCV001117502, REVEL 0.66, CADD 26.40, Uncertain significance, not provided; Alpha-1-antitrypsin deficiency
- A84V (p.Ala84Val), cosmic curated COSV63345, gnomAD rs1460874866, REVEL 0.69, CADD 26.80
- F85S (p.Phe85Ser), gnomAD rs1370857918, REVEL 0.77, CADD 25.70
- L88F (p.Leu88Phe), TOPMed rs1191769902, gnomAD rs1191769902, REVEL 0.62, CADD 24.30
- L88V (p.Leu88Val), TOPMed rs1191769902, gnomAD rs1191769902, REVEL 0.46, CADD 22.70
- S89F (p.Ser89Phe), NCI-TCGA Cosmic COSV6334, cosmic curated COSV63345, REVEL 0.55, CADD 24.20, Variant assessed as somatic; moderate impact.
- L90M (p.Leu90Met), cosmic curated COSV63345
- L90P (p.Leu90Pro), 1000Genomes rs564267551, ExAC rs564267551, TOPMed rs564267551, gnomAD rs564267551
- L90R (p.Leu90Arg), 1000Genomes rs564267551, ExAC rs564267551, TOPMed rs564267551, gnomAD rs564267551, REVEL 0.68, CADD 23.50
- L90V (p.Leu90Val), gnomAD rs1433266173, REVEL 0.46, CADD 22.50
- G91E (p.Gly91Glu), rs28931568, ClinGen CA127674, ClinVar RCV000019566, ClinVar RCV000201855, AlphaMissense 0.88, MetaLR 0.94, Pathogenic; other, Alpha-1-antitrypsin deficiency; PI M(MINERAL SPRINGS)
- G91R (p.Gly91Arg), NCI-TCGA Cosmic COSV6334, cosmic curated COSV63346, Variant assessed as somatic; moderate impact., in A1ATD
- T92I (p.Thr92Ile), rs1490133295, UniProt VAR 006988, TOPMed rs1490133295, gnomAD rs1490133295, REVEL 0.64, CADD 24.10, Pathogenic, in A1ATD
- T92S (p.Thr92Ser), TOPMed rs1490133295, gnomAD rs1490133295
- A94G (p.Ala94Gly), Ensembl rs1595613917
- A94T (p.Ala94Thr), TOPMed rs1897048452
- D95E (p.Asp95Glu), cosmic curated COSV63345, TOPMed rs199962756, gnomAD rs199962756, REVEL 0.13, CADD 12.60
- D95N (p.Asp95Asn), gnomAD rs1252210567, REVEL 0.09, CADD 17.30
- T96A (p.Thr96Ala), ESP rs376616935, ExAC rs376616935, TOPMed rs376616935, gnomAD rs376616935, REVEL 0.84, CADD 25.60
- T96I (p.Thr96Ile), cosmic curated COSV63345, TOPMed rs1425601743
- H97Q (p.His97Gln), ExAC rs781502220, TOPMed rs781502220, gnomAD rs781502220, REVEL 0.36, CADD 13.30, Likely benign
- D98N (p.Asp98Asn), rs1035193069, NCI-TCGA Cosmic COSV6334, cosmic curated COSV63345, TOPMed rs1035193069, REVEL 0.10, CADD 1.19, Variant assessed as somatic; moderate impact.
- D98V (p.Asp98Val), Ensembl rs1566757762
- E99D (p.Glu99Asp), rs1566757757, ClinGen CA390850371, ClinVar RCV000768547, Ensembl rs1566757757, REVEL 0.55, CADD 21.50, Likely benign, Alpha-1-antitrypsin deficiency
- E99K (p.Glu99Lys), Ensembl rs2139694097
- I100N (p.Ile100Asn), rs1555369135, ClinGen CA390850366, ClinVar RCV000512627, Ensembl rs1555369135, REVEL 0.80, CADD 25.50, Uncertain significance, Alpha-1-antitrypsin deficiency
- E102K (p.Glu102Lys), gnomAD rs1234126292, REVEL 0.29, CADD 4.71
- E102V (p.Glu102Val), TOPMed rs1897044682
- G103S (p.Gly103Ser), cosmic curated COSV10650
- N105D (p.Asn105Asp), ExAC rs757510628, TOPMed rs757510628, gnomAD rs757510628, REVEL 0.24, CADD 0.00
- N105K (p.Asn105Lys), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- F106L (p.Phe106Leu), TOPMed rs1281659812, gnomAD rs1281659812, Likely benign
- L108H (p.Leu108His), ESP rs137888162, TOPMed rs137888162
- L108R (p.Leu108Arg), ESP rs137888162, TOPMed rs137888162, REVEL 0.46, CADD 22.60, Uncertain significance, Alpha-1-antitrypsin deficiency
- L108V (p.Leu108Val), Ensembl rs779344345, REVEL 0.41, CADD 16.80
- T109M (p.Thr109Met), rs199422213, ClinGen CA127741, cosmic curated COSV63345, ClinVar RCV000019609, REVEL 0.59, CADD 23.00, Uncertain significance, not provided; Alpha-1-antitrypsin deficiency
- E110K (p.Glu110Lys), cosmic curated COSV63346, cosmic curated COSV10525
- I111M (p.Ile111Met), rs886050923, ClinGen CA10641355, ClinVar RCV000356425, TOPMed rs886050923, REVEL 0.27, CADD 0.21, Uncertain significance, Alpha-1-antitrypsin deficiency
- I111V (p.Ile111Val), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, REVEL 0.13, CADD 1.08, Variant assessed as somatic; moderate impact.
- P112L (p.Pro112Leu), rs758820515, NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6334, cosmic curated COSV63345, REVEL 0.28, CADD 7.59, Variant assessed as somatic; moderate impact., in M5-Berlin
- P112Q (p.Pro112Gln), cosmic curated COSV10087
- P112S (p.Pro112Ser), rs886044322, ClinGen CA390850277, ClinVar RCV000732508, TOPMed rs886044322, REVEL 0.29, CADD 0.00, Uncertain significance, not provided
- P112T (p.Pro112Thr), rs886044322, ClinGen CA10606617, ClinVar RCV000333385, UniProt VAR 006989, REVEL 0.28, CADD 0.02, Uncertain significance, not provided
- E113D (p.Glu113Asp), rs1566757595, ClinGen CA390850260, ClinVar RCV000734907, TOPMed rs1566757595, REVEL 0.34, CADD 19.40, Uncertain significance, not provided
- E113K (p.Glu113Lys), cosmic curated COSV10610, ExAC rs765628480, gnomAD rs765628480, REVEL 0.44, CADD 23.30
Public SERPINA1 analysis runs
- SERPINA1 analysis run — SERPINA1 (951 variants) — completed 2026-08-18