CMA1 (Chymase) variants and mutations
CMA1 (also known as Chymase) is a human protein-coding gene encoding a chymase protein. Chymase is a secreted serine protease stored in mast-cell granules. It is thought to help generate vasoactive peptides, remodel the extracellular matrix, and regulate glandular secretion. This analysis covers 663 CMA1 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes pernicious anemia, myocardial infarction, and neoplasm. Example CMA1 variants include L3F, L3I, and L3P.
Variant analysis overview
- Gene: CMA1
- Protein: Chymase
- UniProt accession: P23946
- Organism: Homo sapiens
- Variants analyzed: 663
- Variant scope: all variants
- Completed: 2026-06-03
Variant and mutation evidence
- Variant composition: 395 unspecified-consequence records; 19 frameshift variants; 102 synonymous variants; 4 stop-gained variants; 134 missense variants; 3 in-frame deletions; 4 splice-region variants; 2 substitution
- Prediction scores: 656 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: pernicious anemia, myocardial infarction, neoplasm, hepatocellular carcinoma, colorectal carcinoma, cancer, dengue disease, Dengue Hemorrhagic Fever, triple-negative breast cancer, breast cancer, non-alcoholic steatohepatitis, melanoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 post-translational modification sites.
- Structural context: 625 variants have structural context.
- PTM context: 4 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 CMA1 variants
Examples include L3F, L3I, L3P, L3R, P5L, P5S, L6F, L6P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- L3F (p.Leu3Phe), ExAC rs747022222, TOPMed rs747022222, gnomAD rs747022222, REVEL 0.14, ESM-1b 0.45
- L3I (p.Leu3Ile), ExAC rs747022222, TOPMed rs747022222, gnomAD rs747022222, ESM-1b 1.00, AlphaMissense 0.08
- L3P (p.Leu3Pro), ESP rs138627111, ExAC rs138627111, TOPMed rs138627111, gnomAD rs138627111, REVEL 0.25, ESM-1b 0.00
- L3R (p.Leu3Arg), ESP rs138627111, ExAC rs138627111, TOPMed rs138627111, gnomAD rs138627111, REVEL 0.33, ESM-1b 0.00
- P5L (p.Pro5Leu), TOPMed rs2043875977, ESM-1b 0.00, AlphaMissense 0.10
- P5S (p.Pro5Ser), TOPMed rs866911710, gnomAD rs866911710, REVEL 0.10, ESM-1b 0.00
- L6F (p.Leu6Phe), TOPMed rs1480567411, gnomAD rs1480567411, REVEL 0.30, ESM-1b 0.00
- L6P (p.Leu6Pro), TOPMed rs2043875932, ESM-1b 0.00, AlphaMissense 0.14
- P7R (p.Pro7Arg), ExAC rs758492989, gnomAD rs758492989, REVEL 0.23, ESM-1b 0.64, Uncertain significance, not specified
- P7T (p.Pro7Thr), gnomAD rs1348570385, REVEL 0.01, ESM-1b 0.00
- L8M (p.Leu8Met), NCI-TCGA Cosmic COSV5162, ESM-1b 1.00, AlphaMissense 0.15, Variant assessed as somatic; moderate impact.
- L9M (p.Leu9Met), NCI-TCGA Cosmic COSV9915, REVEL 0.20, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- L10F (p.Leu10Phe), rs1163104747, NCI-TCGA Cosmic COSV9915, TOPMed rs1163104747, gnomAD rs1163104747, REVEL 0.10, ESM-1b 0.05, Variant assessed as somatic; moderate impact.
- L10P (p.Leu10Pro), ExAC rs757604592, TOPMed rs757604592, gnomAD rs757604592, REVEL 0.34, ESM-1b 0.22
- F11S (p.Phe11Ser), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.18, Variant assessed as somatic; high impact.
- L12F (p.Leu12Phe), ExAC rs754249339, gnomAD rs754249339, ESM-1b 0.00, AlphaMissense 0.06
- L12I (p.Leu12Ile), NCI-TCGA Cosmic COSV5162, ESM-1b 0.75, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- L12V (p.Leu12Val), ExAC rs754249339, gnomAD rs754249339, REVEL 0.10, ESM-1b 0.19
- L13* (p.Leu13Ter), Ensembl rs2043875573, CADD 36.00
- C14R (p.Cys14Arg), ExAC rs750271409, TOPMed rs750271409, gnomAD rs750271409, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- S15C (p.Ser15Cys), ExAC rs767064267, TOPMed rs767064267, gnomAD rs767064267, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not specified
- S15P (p.Ser15Pro), ExAC rs752097096, gnomAD rs752097096, REVEL 0.08, ESM-1b 0.00
- R16K (p.Arg16Lys), gnomAD rs2043875380, REVEL 0.04, ESM-1b 0.00
- A17D (p.Ala17Asp), ExAC rs374563696, gnomAD rs374563696, REVEL 0.14, ESM-1b 0.58
- A17V (p.Ala17Val), ExAC rs374563696, gnomAD rs374563696, REVEL 0.14, ESM-1b 0.00
- E18A (p.Glu18Ala), gnomAD rs1439294475, REVEL 0.15, ESM-1b 0.00
- A19G (p.Ala19Gly), ExAC rs770759950, TOPMed rs770759950, gnomAD rs770759950, REVEL 0.10, ESM-1b 0.00
- A19S (p.Ala19Ser), ESP rs150093806, ExAC rs150093806, TOPMed rs150093806, gnomAD rs150093806, REVEL 0.03, ESM-1b 0.06
- A19T (p.Ala19Thr), ESP rs150093806, ExAC rs150093806, TOPMed rs150093806, gnomAD rs150093806, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not specified
- G20W (p.Gly20Trp), ExAC rs762814223, TOPMed rs762814223, gnomAD rs762814223, REVEL 0.42, ESM-1b 1.00
- E21D (p.Glu21Asp), ExAC rs776902640, TOPMed rs776902640, gnomAD rs776902640, REVEL 0.06, ESM-1b 1.00, Uncertain significance, not specified
- E21G (p.Glu21Gly), TOPMed rs1265404594, REVEL 0.18, ESM-1b 1.00
- E21K (p.Glu21Lys), rs1429605331, NCI-TCGA Cosmic COSV9915, TOPMed rs1429605331, gnomAD rs1429605331, REVEL 0.13, ESM-1b 0.58, Variant assessed as somatic; moderate impact.
- I22N (p.Ile22Asn), TOPMed rs1481267836, REVEL 0.61, ESM-1b 1.00
- I23M (p.Ile23Met), ESP rs376957072, ExAC rs376957072, TOPMed rs376957072, gnomAD rs376957072, ESM-1b 1.00, AlphaMissense 0.25
- I23T (p.Ile23Thr), ExAC rs760625006, TOPMed rs760625006, gnomAD rs760625006, REVEL 0.80, ESM-1b 1.00
- G24R (p.Gly24Arg), rs140753864, ClinGen CA7139085, ClinVar RCV004203678, ESP rs140753864, REVEL 0.21, ESM-1b 0.29, Uncertain significance, not specified
- G25D (p.Gly25Asp), TOPMed rs1361829193, gnomAD rs1361829193, REVEL 0.68, ESM-1b 1.00
- T26I (p.Thr26Ile), 1000Genomes rs552670864, ExAC rs552670864, TOPMed rs552670864, gnomAD rs552670864, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- T26R (p.Thr26Arg), rs552670864, ClinGen CA389266443, ClinVar RCV004097995, 1000Genomes rs552670864, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not specified
- E27G (p.Glu27Gly), ExAC rs748509171, gnomAD rs748509171, REVEL 0.67, ESM-1b 1.00
- E27Q (p.Glu27Gln), Ensembl rs2043868174, ESM-1b 1.00, AlphaMissense 0.23
- C28* (p.Cys28Ter), Ensembl rs932232367
- C28S (p.Cys28Ser), Ensembl rs1594787327, ESM-1b 0.00, AlphaMissense 0.23
- P30S (p.Pro30Ser), ExAC rs781433490, gnomAD rs781433490, REVEL 0.59, ESM-1b 1.00
- H31Q (p.His31Gln), TOPMed rs2043868015, REVEL 0.33, ESM-1b 1.00
- H31R (p.His31Arg), TOPMed rs1463515827, REVEL 0.36, ESM-1b 1.00
- H31Y (p.His31Tyr), ExAC rs755484632, gnomAD rs755484632, REVEL 0.33, ESM-1b 1.00
- S32A (p.Ser32Ala), TOPMed rs2043867979, REVEL 0.23, ESM-1b 1.00
- S32F (p.Ser32Phe), gnomAD rs2043867955, REVEL 0.49, ESM-1b 1.00
- R33C (p.Arg33Cys), 1000Genomes rs138432864, ESP rs138432864, ExAC rs138432864, TOPMed rs138432864, REVEL 0.18, ESM-1b 1.00
- R33G (p.Arg33Gly), 1000Genomes rs138432864, ESP rs138432864, ExAC rs138432864, TOPMed rs138432864, ESM-1b 1.00, AlphaMissense 0.88
- R33H (p.Arg33His), ESP rs201020585, ExAC rs201020585, TOPMed rs201020585, gnomAD rs201020585, REVEL 0.10, ESM-1b 0.70
- R33L (p.Arg33Leu), ESP rs201020585, ExAC rs201020585, TOPMed rs201020585, gnomAD rs201020585, REVEL 0.28, ESM-1b 1.00
- R33S (p.Arg33Ser), 1000Genomes rs138432864, ESP rs138432864, ExAC rs138432864, TOPMed rs138432864, REVEL 0.35, ESM-1b 1.00
- P34H (p.Pro34His), NCI-TCGA Cosmic COSV9915, REVEL 0.82, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P34L (p.Pro34Leu), gnomAD rs995567512, REVEL 0.81, ESM-1b 1.00
- P34R (p.Pro34Arg), gnomAD rs995567512, REVEL 0.85, ESM-1b 1.00
- Y35* (p.Tyr35Ter), NCI-TCGA Cosmic COSV5162, Variant assessed as somatic; high impact.
- Y35T (p.Tyr35Thr), NCI-TCGA TCGA novel, REVEL 0.57, ESM-1b 1.00, Variant assessed as somatic; high impact.
- M36I (p.Met36Ile), ExAC rs763885364, gnomAD rs763885364, REVEL 0.73, ESM-1b 1.00, Uncertain significance, not specified
- M36L (p.Met36Leu), ExAC rs753617059, TOPMed rs753617059, gnomAD rs753617059, REVEL 0.77, ESM-1b 1.00
- M36V (p.Met36Val), ExAC rs753617059, TOPMed rs753617059, gnomAD rs753617059, REVEL 0.74, ESM-1b 1.00
- A37D (p.Ala37Asp), ExAC rs767494660, TOPMed rs767494660, gnomAD rs767494660, REVEL 0.65, ESM-1b 1.00
- A37S (p.Ala37Ser), ExAC rs549266517, gnomAD rs549266517, REVEL 0.43, ESM-1b 1.00
- A37T (p.Ala37Thr), ExAC rs549266517, gnomAD rs549266517, REVEL 0.41, ESM-1b 1.00
- A37V (p.Ala37Val), ExAC rs767494660, TOPMed rs767494660, gnomAD rs767494660, REVEL 0.20, ESM-1b 0.00
- Y38* (p.Tyr38Ter), 1000Genomes rs13306254, ESP rs13306254, ExAC rs13306254, TOPMed rs13306254, CADD 35.00
- Y38C (p.Tyr38Cys), ExAC rs763060029, gnomAD rs763060029, REVEL 0.24, ESM-1b 1.00
- L39M (p.Leu39Met), NCI-TCGA Cosmic COSV5162, ESM-1b 1.00, AlphaMissense 0.34, Variant assessed as somatic; moderate impact.
- L39Q (p.Leu39Gln), NCI-TCGA Cosmic COSV5162, REVEL 0.80, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- E40K (p.Glu40Lys), gnomAD rs1389826522, REVEL 0.29, ESM-1b 0.00
- I41T (p.Ile41Thr), TOPMed rs2043867496, REVEL 0.48, ESM-1b 0.47
- V42A (p.Val42Ala), gnomAD rs1459394785, REVEL 0.16, ESM-1b 0.00
- V42I (p.Val42Ile), ESP rs368187838, ExAC rs368187838, TOPMed rs368187838, gnomAD rs368187838, REVEL 0.15, ESM-1b 0.00
- V42L (p.Val42Leu), ESP rs368187838, ExAC rs368187838, TOPMed rs368187838, gnomAD rs368187838, REVEL 0.25, ESM-1b 0.00
- V42M (p.Val42Met), rs753617059, []
- T43P (p.Thr43Pro), gnomAD rs1351643501, REVEL 0.38, ESM-1b 1.00
- T43S (p.Thr43Ser), ESP rs377088231, TOPMed rs377088231, gnomAD rs377088231, REVEL 0.21, ESM-1b 0.00
- N45K (p.Asn45Lys), rs1001813145, ClinGen CA257906723, ClinVar RCV004439579, TOPMed rs1001813145, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not specified
- N45N (p.Asn45Asn), rs1001813145, gnomAD 14-24507430-G-A, CADD 0.21
- G46C (p.Gly46Cys), 1000Genomes rs5246, ESP rs5246, ExAC rs5246, TOPMed rs5246, REVEL 0.20, ESM-1b 1.00, Likely benign
- G46R (p.Gly46Arg), rs5246, ClinGen CA7139061, ClinVar RCV000880120, UniProt VAR 011770, REVEL 0.15, ESM-1b 0.58, Likely benign, not provided
- G46S (p.Gly46Ser), 1000Genomes rs5246, ESP rs5246, ExAC rs5246, TOPMed rs5246, REVEL 0.16, ESM-1b 0.06, Likely benign
- G46V (p.Gly46Val), gnomAD 14-24507427-AC-A, CADD 14.90
- P47T (p.Pro47Thr), ExAC rs747437697, gnomAD rs747437697, REVEL 0.13, ESM-1b 0.00
- P47P (p.Pro47Pro), gnomAD 14-24507424-G-A, CADD 0.33
- P47L (p.Pro47Leu), gnomAD 14-24507425-G-A, REVEL 0.17, ESM-1b 0.00
- P47A (p.Pro47Ala), gnomAD 14-24507426-G-C, REVEL 0.12, ESM-1b 0.00
- P47S (p.Pro47Ser), gnomAD 14-24507426-G-A, REVEL 0.13, ESM-1b 0.00
- S48* (p.Ser48Ter), 1000Genomes rs142904150, ESP rs142904150, ExAC rs142904150, TOPMed rs142904150, CADD 27.90
- S48A (p.Ser48Ala), TOPMed rs1430013155, REVEL 0.26, ESM-1b 0.00
- S48Q (p.Ser48Gln), gnomAD 14-24507423-AG-A, CADD 7.54
- K49E (p.Lys49Glu), rs2502588507, ClinGen CA389265833, NCI-TCGA Cosmic COSV5162, ClinVar RCV004120247, ESM-1b 1.00, AlphaMissense 0.23, Uncertain significance, not specified
- K49T (p.Lys49Thr), gnomAD 14-24507419-T-G, REVEL 0.12, ESM-1b 0.00
- C51Y (p.Cys51Tyr), ExAC rs745343471, TOPMed rs745343471, gnomAD rs745343471, REVEL 0.72, ESM-1b 1.00
- C51F (p.Cys51Phe), gnomAD 14-24507413-C-A, REVEL 0.75, ESM-1b 1.00
- G52C (p.Gly52Cys), ExAC rs778307845, gnomAD rs778307845, ESM-1b 1.00, AlphaMissense 0.71
- G52D (p.Gly52Asp), ExAC rs200189048, TOPMed rs200189048, gnomAD rs200189048, REVEL 0.80, ESM-1b 0.00
- G52S (p.Gly52Ser), ExAC rs778307845, gnomAD rs778307845, REVEL 0.74, ESM-1b 1.00
- G52V (p.Gly52Val), ExAC rs200189048, TOPMed rs200189048, gnomAD rs200189048, REVEL 0.77, ESM-1b 1.00
- G53S (p.Gly53Ser), gnomAD rs1203782942, REVEL 0.66, ESM-1b 1.00
- G53G (p.Gly53Gly), gnomAD 14-24507406-A-G, CADD 1.81
- G53D (p.Gly53Asp), gnomAD 14-24507407-C-T, REVEL 0.67, ESM-1b 1.00
- F54C (p.Phe54Cys), ExAC rs753433709, gnomAD rs753433709, REVEL 0.63, ESM-1b 1.00
- F54L (p.Phe54Leu), NCI-TCGA Cosmic COSV9915, ESM-1b 1.00, AlphaMissense 0.97, Variant assessed as somatic; moderate impact.
- F54F (p.Phe54Phe), rs896348903, gnomAD 14-24507403-G-A, CADD 6.30
- L55F (p.Leu55Phe), NCI-TCGA Cosmic COSV5162, REVEL 0.62, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- L55H (p.Leu55His), gnomAD 14-24507401-A-T, REVEL 0.80, ESM-1b 1.00
- L55P (p.Leu55Pro), gnomAD 14-24507401-A-G, REVEL 0.80, ESM-1b 1.00
- I56V (p.Ile56Val), ExAC rs777466346, gnomAD rs777466346, REVEL 0.09, ESM-1b 0.00
- I56* (p.Ile56Ter), rs542619483, gnomAD 14-24507398-AT-A, CADD 24.20
- I56T (p.Ile56Thr), gnomAD 14-24507398-A-G, REVEL 0.69, ESM-1b 1.00
- R57R (p.Arg57Arg), rs1298956738, gnomAD 14-24507394-T-C, CADD 11.90
- R57G (p.Arg57Gly), gnomAD 14-24507396-T-C, REVEL 0.30, ESM-1b 1.00
- R58Q (p.Arg58Gln), rs372192946, ClinVar RCV004560195, ESP rs372192946, ExAC rs372192946, REVEL 0.07, ESM-1b 0.00, Likely benign, EBV-positive nodal T- and NK-cell lymphoma
- R58W (p.Arg58Trp), 1000Genomes rs202195650, ExAC rs202195650, TOPMed rs202195650, gnomAD rs202195650, REVEL 0.16, ESM-1b 0.26
- R58R (p.Arg58Arg), rs202195650, gnomAD 14-24507393-G-T, CADD 8.11
- N59D (p.Asn59Asp), gnomAD rs1307400505, REVEL 0.24, ESM-1b 0.00
- N59K (p.Asn59Lys), rs200210391, ClinGen CA257906653, ClinVar RCV004157169, 1000Genomes rs200210391, REVEL 0.28, ESM-1b 0.76, Uncertain significance, not specified
- N59N (p.Asn59Asn), gnomAD 14-24507388-G-A, CADD 7.20
- N59I (p.Asn59Ile), gnomAD 14-24507389-T-A, REVEL 0.56, ESM-1b 1.00
- F60S (p.Phe60Ser), gnomAD 14-24507386-A-G, REVEL 0.41, ESM-1b 1.00
- V61E (p.Val61Glu), gnomAD rs1368868678, REVEL 0.78, ESM-1b 1.00
- V61M (p.Val61Met), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.79, Variant assessed as somatic; moderate impact.
- V61V (p.Val61Val), rs1296071585, gnomAD 14-24507382-C-T, CADD 3.32
- V61G (p.Val61Gly), gnomAD 14-24507383-A-C, REVEL 0.76, ESM-1b 1.00
- V61A (p.Val61Ala), gnomAD 14-24507383-A-G, REVEL 0.71, ESM-1b 1.00
- L62P (p.Leu62Pro), TOPMed rs2043866715, ESM-1b 1.00, AlphaMissense 0.95
- L62V (p.Leu62Val), NCI-TCGA Cosmic COSV5162, NCI-TCGA Cosmic COSV9915, ESM-1b 0.00, AlphaMissense 0.22, Variant assessed as somatic; moderate impact.
- L62L (p.Leu62Leu), gnomAD 14-24507379-C-A, CADD 8.85
- T63M (p.Thr63Met), 1000Genomes rs13306251, ESP rs13306251, ExAC rs13306251, TOPMed rs13306251, REVEL 0.78, ESM-1b 1.00
- T63R (p.Thr63Arg), 1000Genomes rs13306251, ESP rs13306251, ExAC rs13306251, TOPMed rs13306251, REVEL 0.83, ESM-1b 1.00
- T63T (p.Thr63Thr), rs765236468, gnomAD 14-24507376-C-T, CADD 0.45
- T63K (p.Thr63Lys), gnomAD 14-24507377-G-T, REVEL 0.83, ESM-1b 1.00
- A64D (p.Ala64Asp), Ensembl rs775687715, REVEL 0.91, ESM-1b 1.00
- A64V (p.Ala64Val), NCI-TCGA TCGA novel, REVEL 0.83, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- A65T (p.Ala65Thr), ExAC rs762021583, gnomAD rs762021583, REVEL 0.61, ESM-1b 1.00
- A65A (p.Ala65Ala), rs1280200670, gnomAD 14-24507370-A-G, CADD 8.80
- A65D (p.Ala65Asp), rs780997300, gnomAD 14-24507371-G-GGC, CADD 32.00
- A65V (p.Ala65Val), gnomAD 14-24507371-G-A, REVEL 0.64, ESM-1b 1.00
- A65L (p.Ala65Leu), rs748063446, gnomAD 14-24507373-A-AGT, CADD 32.00
- H66Q (p.His66Gln), NCI-TCGA Cosmic COSV5162, TOPMed rs1242280166, gnomAD rs1242280166, REVEL 0.83, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- H66R (p.His66Arg), rs5247, UniProt VAR 011771, 1000Genomes rs5247, ESP rs5247, REVEL 0.63, ESM-1b 1.00
- H66Y (p.His66Tyr), ExAC rs776982970, TOPMed rs776982970, gnomAD rs776982970, REVEL 0.88, ESM-1b 1.00
- H66P (p.His66Pro), gnomAD 14-24507368-T-G, REVEL 0.89, ESM-1b 1.00
- H66N (p.His66Asn), gnomAD 14-24507369-G-T, REVEL 0.84, ESM-1b 1.00
- H66S (p.His66Ser), rs755008668, gnomAD 14-24507370-A-AC, CADD 32.00
- C67Y (p.Cys67Tyr), Ensembl rs2043866318, REVEL 0.77, ESM-1b 1.00
- C67F (p.Cys67Phe), gnomAD 14-24507365-C-A, REVEL 0.78, ESM-1b 1.00
- C67S (p.Cys67Ser), gnomAD 14-24507365-C-G, REVEL 0.77, ESM-1b 1.00
- A68E (p.Ala68Glu), ExAC rs776027325, gnomAD rs776027325, REVEL 0.28, ESM-1b 0.00
- A68T (p.Ala68Thr), ExAC rs761088628, gnomAD rs761088628, REVEL 0.30, ESM-1b 0.00
- A68S (p.Ala68Ser), gnomAD 14-24507363-C-A, REVEL 0.23, ESM-1b 0.00
- G69E (p.Gly69Glu), 1000Genomes rs539562095, ExAC rs539562095, gnomAD rs539562095, REVEL 0.58, ESM-1b 1.00
- G69R (p.Gly69Arg), TOPMed rs931343730, gnomAD rs931343730, REVEL 0.57, ESM-1b 0.89
- G69V (p.Gly69Val), 1000Genomes rs539562095, ExAC rs539562095, gnomAD rs539562095, REVEL 0.54, ESM-1b 1.00
- R70G (p.Arg70Gly), TOPMed rs1247153427, gnomAD rs1247153427, REVEL 0.45, ESM-1b 0.00
- R70M (p.Arg70Met), Ensembl rs2043866194, ESM-1b 0.98, AlphaMissense 0.28
- R70S (p.Arg70Ser), ExAC rs754716628, TOPMed rs754716628, gnomAD rs754716628, REVEL 0.27, ESM-1b 0.00, Likely benign
- R70R (p.Arg70Arg), rs754716628, gnomAD 14-24506604-C-T, CADD 7.36
- R70K (p.Arg70Lys), rs1235115695, gnomAD 14-24507356-C-CT, CADD 32.00
- S71F (p.Ser71Phe), Ensembl rs2138398201, ESM-1b 0.00, AlphaMissense 0.18
- S71S (p.Ser71Ser), rs746872183, gnomAD 14-24506601-A-T, CADD 7.26
- S71C (p.Ser71Cys), gnomAD 14-24506602-G-C, REVEL 0.37, ESM-1b 0.63
- I72T (p.Ile72Thr), ExAC rs758391344, gnomAD rs758391344, REVEL 0.56, ESM-1b 1.00
- I72V (p.Ile72Val), ExAC rs779823629, TOPMed rs779823629, gnomAD rs779823629, REVEL 0.18, ESM-1b 0.15
- T73K (p.Thr73Lys), NCI-TCGA Cosmic COSV1043, gnomAD rs2043859421, REVEL 0.23, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T73T (p.Thr73Thr), rs753920519, gnomAD 14-24506595-T-A, CADD 1.08
- T73I (p.Thr73Ile), gnomAD 14-24506596-G-A, REVEL 0.30, ESM-1b 0.00
- V74V (p.Val74Val), gnomAD 14-24506592-G-C, CADD 7.88
- T75N (p.Thr75Asn), ExAC rs764282767, gnomAD rs764282767, REVEL 0.16, ESM-1b 1.00
- T75T (p.Thr75Thr), rs756334130, gnomAD 14-24506589-G-A, CADD 7.65
- L76F (p.Leu76Phe), ExAC rs752959307, gnomAD rs752959307, REVEL 0.62, ESM-1b 1.00
- L76P (p.Leu76Pro), TOPMed rs1461735217, gnomAD rs1461735217, REVEL 0.85, ESM-1b 1.00, Uncertain significance, not specified
- L76L (p.Leu76Leu), rs1282522462, gnomAD 14-24506586-A-T, CADD 4.08
- G77E (p.Gly77Glu), ExAC rs767835215, gnomAD rs767835215, ESM-1b 1.00, AlphaMissense 0.95
- G77R (p.Gly77Arg), Ensembl rs2043859041, ESM-1b 1.00, AlphaMissense 0.92
- G77G (p.Gly77Gly), gnomAD 14-24506583-T-C, CADD 12.70
- G77A (p.Gly77Ala), gnomAD 14-24506584-C-G, REVEL 0.63, ESM-1b 1.00
Public CMA1 analysis runs
- CMA1 analysis run — CMA1 (663 variants) — completed 2026-06-03