ACVR1 (Activin receptor type-1) variants and mutations
ACVR1 (also known as Activin receptor type-1) is a human protein-coding gene encoding an activin receptor type-1 protein. It transduces BMP-family signals that regulate bone formation and developmental patterning. Recurrent activating variants cause fibrodysplasia ossificans progressiva by making connective-tissue cells abnormally responsive to osteogenic signaling, and somatic variants also occur in diffuse midline glioma. This analysis covers 875 ACVR1 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes fibrodysplasia ossificans progressiva, myelofibrosis, and neoplasm. Example ACVR1 variants include M1?, M1V, and V2I.
Variant analysis overview
- Gene: ACVR1
- Protein: Activin receptor type-1
- UniProt accession: Q04771
- Organism: Homo sapiens
- Variants analyzed: 875
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 602 unspecified-consequence records; 1 stop lost; 126 synonymous variants; 11 frameshift variants; 114 missense variants; 10 stop-gained variants; 1 protein altering variant; 3 in-frame deletions; 4 splice-region variants; 1 in-frame insertions; 3 substitution
- Prediction scores: 597 variants have prediction scores (68% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: fibrodysplasia ossificans progressiva, myelofibrosis, neoplasm, primary myelofibrosis, neurodegenerative disease, hereditary disease, bone disorder, pancreatic ductal adenocarcinoma, acquired polycythemia vera, Splenomegaly, endometrial cancer, myeloproliferative disorder.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 domains; 2 binding sites; 2 post-translational modification sites.
- Structural context: 634 variants have structural context.
- PTM context: 3 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 ACVR1 variants
Examples include M1?, M1V, V2I, D3Y, G4E, G4R, V5M, M6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5511, cosmic curated COSV55118, cosmic curated COSV55119, Variant assessed as somatic; high impact.
- M1V (p.Met1Val), rs764556792, ClinGen CA1919263, ClinVar RCV003084149, Uncertain significance, not provided
- V2I (p.Val2Ile), gnomAD rs1280889930, REVEL 0.15, CADD 12.80
- D3Y (p.Asp3Tyr), cosmic curated COSV10962
- G4E (p.Gly4Glu), rs1203606345, ClinGen CA349194214, ClinVar RCV002166093, gnomAD rs1203606345, REVEL 0.47, CADD 23.20, Likely benign, not provided
- G4R (p.Gly4Arg), cosmic curated COSV55121
- V5M (p.Val5Met), ExAC rs756630764, TOPMed rs756630764, gnomAD rs756630764, REVEL 0.32, CADD 22.70
- M6V (p.Met6Val), cosmic curated COSV99717
- L8R (p.Leu8Arg), Ensembl rs1687247934
- P9S (p.Pro9Ser), rs753322618, ClinGen CA1919261, ClinVar RCV004436358, ClinVar RCV005065087, REVEL 0.18, CADD 19.90, Uncertain significance, not provided; Inborn genetic diseases
- V10M (p.Val10Met), TOPMed rs1041708226
- L11F (p.Leu11Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I12M (p.Ile12Met), gnomAD rs1687247223, REVEL 0.18, CADD 4.62, Likely benign, Inborn genetic diseases
- I12V (p.Ile12Val), rs759017686, ClinGen CA1919259, ClinVar RCV003880301, ExAC rs759017686, REVEL 0.18, CADD 10.80, Likely benign, not provided
- M13R (p.Met13Arg), gnomAD rs1315007491, REVEL 0.38, CADD 23.10
- I14F (p.Ile14Phe), ExAC rs773936526, gnomAD rs773936526, REVEL 0.30, CADD 22.00
- I14V (p.Ile14Val), rs773936526, ClinGen CA349194153, ClinVar RCV003022685, Uncertain significance, not provided
- A15G (p.Ala15Gly), rs13406336, ClinGen CA1919257, ClinVar RCV000243523, ClinVar RCV000350817, REVEL 0.25, CADD 22.80, Benign/Likely benign, not specified; not provided; Progressive myositis ossificans
- P17S (p.Pro17Ser), NCI-TCGA Cosmic COSV5512, cosmic curated COSV55121, Variant assessed as somatic; moderate impact.
- S18A (p.Ser18Ala), ExAC rs745444504, gnomAD rs745444504, REVEL 0.15, CADD 19.80, Uncertain significance
- S18T (p.Ser18Thr), rs745444504, ClinGen CA1919256, ClinVar RCV003719693, ClinVar RCV005794593, REVEL 0.23, CADD 19.60, Uncertain significance, not provided; Inborn genetic diseases
- S18Y (p.Ser18Tyr), gnomAD rs1383805044, REVEL 0.40, CADD 20.60
- P19A (p.Pro19Ala), TOPMed rs1158969294, gnomAD rs1158969294, REVEL 0.34, CADD 19.70, Uncertain significance, not provided
- P19S (p.Pro19Ser), rs1158969294, ClinGen CA349194124, ClinVar RCV002617499, TOPMed rs1158969294, REVEL 0.35, CADD 20.50, Uncertain significance, not provided
- S20G (p.Ser20Gly), NCI-TCGA Cosmic COSV5511, cosmic curated COSV55116, Ensembl rs1687245837, REVEL 0.20, CADD 21.40, Variant assessed as somatic; moderate impact.
- S20N (p.Ser20Asn), gnomAD rs1383193990, REVEL 0.16, CADD 18.10
- M21R (p.Met21Arg), TOPMed rs1687245345, REVEL 0.29, CADD 22.90
- M21V (p.Met21Val), TOPMed rs1170014341, gnomAD rs1170014341, REVEL 0.27, CADD 7.16
- E22Q (p.Glu22Gln), rs1473120013, ClinGen CA349194102, ClinVar RCV003712042, gnomAD rs1473120013, REVEL 0.32, CADD 20.90, Uncertain significance, not provided
- D23H (p.Asp23His), TOPMed rs1687244904
- D23N (p.Asp23Asn), TOPMed rs1687244904
- K25R (p.Lys25Arg), Ensembl rs1157679779
- P26A (p.Pro26Ala), cosmic curated COSV55117, REVEL 0.18, CADD 16.70
- P26S (p.Pro26Ser), rs377197386, ClinGen CA1919226, ClinVar RCV001923880, ClinVar RCV004758203, REVEL 0.19, CADD 18.40, Benign, not provided
- K27E (p.Lys27Glu), rs2467968205, ClinGen CA349194053, ClinVar RCV003699966, Uncertain significance, not provided
- V28D (p.Val28Asp), Ensembl rs2105281465, REVEL 0.31, CADD 15.30
- V28F (p.Val28Phe), cosmic curated COSV55117, Ensembl rs1426099891
- N29I (p.Asn29Ile), ExAC rs761642757, gnomAD rs761642757, REVEL 0.25, CADD 8.20
- N29S (p.Asn29Ser), NCI-TCGA TCGA novel, ExAC rs761642757, gnomAD rs761642757, Variant assessed as somatic; moderate impact.
- P30R (p.Pro30Arg), TOPMed rs1364644712, gnomAD rs1364644712, REVEL 0.28, CADD 16.90
- P30S (p.Pro30Ser), TOPMed rs1686471471, gnomAD rs1686471471, REVEL 0.21, CADD 9.76
- K31R (p.Lys31Arg), rs547743970, ClinGen CA1919224, cosmic curated COSV55117, ClinVar RCV002654274, REVEL 0.17, CADD 19.30, Uncertain significance, not provided
- L32P (p.Leu32Pro), ESP rs373607071, ExAC rs373607071, gnomAD rs373607071
- Y33* (p.Tyr33Ter), rs201453468, ClinGen CA349194009, ClinVar RCV002022515, 1000Genomes rs201453468, CADD 35.00, Benign
- Y33C (p.Tyr33Cys), cosmic curated COSV10801
- Y33F (p.Tyr33Phe), Ensembl rs1686470351, REVEL 0.33, CADD 22.40
- M34K (p.Met34Lys), ExAC rs757848830, TOPMed rs757848830, gnomAD rs757848830, REVEL 0.30, CADD 19.00
- M34R (p.Met34Arg), ExAC rs757848830, TOPMed rs757848830, gnomAD rs757848830, REVEL 0.31, CADD 22.20
- M34T (p.Met34Thr), ExAC rs757848830, TOPMed rs757848830, gnomAD rs757848830, REVEL 0.29, CADD 19.40
- M34V (p.Met34Val), rs370437421, cosmic curated COSV55121, ESP rs370437421, REVEL 0.25, CADD 19.70, Variant assessed as somatic; moderate impact.
- V36A (p.Val36Ala), rs377466501, ClinGen CA1919218, ClinVar RCV003561396, ESP rs377466501, REVEL 0.38, CADD 22.20, Uncertain significance, not provided
- V36E (p.Val36Glu), ESP rs377466501, ExAC rs377466501, TOPMed rs377466501, gnomAD rs377466501, REVEL 0.90, CADD 24.60, Uncertain significance
- V36L (p.Val36Leu), rs2467967930, ClinGen CA349193993, ClinVar RCV003983433, Uncertain significance, ACVR1-related disorder
- C37* (p.Cys37Ter), cosmic curated COSV55117, CADD 32.00
- G39S (p.Gly39Ser), rs983884500, ClinGen CA59281066, ClinVar RCV003429311, TOPMed rs983884500, REVEL 0.71, CADD 22.40, Conflicting interpretations, not provided
- G39V (p.Gly39Val), rs1686468929, ClinGen CA349193970, ClinVar RCV003552888, ClinVar RCV004963688, REVEL 0.87, CADD 23.80, Uncertain significance, not provided; Inborn genetic diseases
- L40F (p.Leu40Phe), cosmic curated COSV10801, Uncertain significance, not provided
- S41F (p.Ser41Phe), rs55957214, ClinGen CA1919216, ClinVar RCV001133126, ClinVar RCV001856716, REVEL 0.69, CADD 24.60, Uncertain significance, Inborn genetic diseases; not provided; Progressive myositis ossificans
- C42G (p.Cys42Gly), cosmic curated COSV55118, REVEL 0.91, CADD 27.30
- G43A (p.Gly43Ala), Ensembl rs1686468538
- G43D (p.Gly43Asp), cosmic curated COSV99718
- G43S (p.Gly43Ser), rs112489929, ClinGen CA1919214, ClinVar RCV000921289, ClinVar RCV005903083, REVEL 0.33, CADD 20.70, Likely benign, not provided
- G43V (p.Gly43Val), cosmic curated COSV10962
- N44H (p.Asn44His), TOPMed rs1006682010, gnomAD rs1006682010, REVEL 0.30, CADD 18.90
- N44S (p.Asn44Ser), TOPMed rs1321405252, REVEL 0.32, CADD 2.52
- E45G (p.Glu45Gly), cosmic curated COSV55119, REVEL 0.25, CADD 22.60
- E45K (p.Glu45Lys), NCI-TCGA Cosmic COSV5511, cosmic curated COSV55118, REVEL 0.28, CADD 19.80, Variant assessed as somatic; moderate impact.
- D46A (p.Asp46Ala), TOPMed rs1219780031, gnomAD rs1219780031, REVEL 0.38, CADD 21.00
- D46N (p.Asp46Asn), TOPMed rs1686468140, gnomAD rs1686468140, REVEL 0.21, CADD 18.80
- H47D (p.His47Asp), rs889434177, ClinGen CA349193921, ClinVar RCV003878168, TOPMed rs889434177, REVEL 0.45, CADD 22.80, Uncertain significance, not provided
- H47N (p.His47Asn), TOPMed rs889434177, gnomAD rs889434177, REVEL 0.35, CADD 22.40, Uncertain significance
- H47Q (p.His47Gln), rs34056189, ClinGen CA1919213, ClinVar RCV000406342, ClinVar RCV000885757, REVEL 0.24, CADD 17.90, Benign/Likely benign, Multiple congenital anomalies/dysmorphic syndrome; not provided; Progressive myo
- H47R (p.His47Arg), cosmic curated COSV10722, REVEL 0.26, CADD 18.10
- H47Y (p.His47Tyr), TOPMed rs889434177, gnomAD rs889434177, Uncertain significance
- E49D (p.Glu49Asp), cosmic curated COSV55116
- E49K (p.Glu49Lys), gnomAD rs1219953789, REVEL 0.33, CADD 22.50
- G50C (p.Gly50Cys), NCI-TCGA Cosmic COSV5512, cosmic curated COSV55123, Variant assessed as somatic; moderate impact.
- G50D (p.Gly50Asp), Ensembl rs1686467440
- G50V (p.Gly50Val), NCI-TCGA Cosmic COSV5511, cosmic curated COSV55116, Variant assessed as somatic; moderate impact.
- Q51H (p.Gln51His), gnomAD rs1320913728, REVEL 0.36, CADD 19.60
- Q52* (p.Gln52Ter), NCI-TCGA Cosmic COSV9971, cosmic curated COSV99718, Variant assessed as somatic; high impact.
- Q52H (p.Gln52His), gnomAD rs1266976280, REVEL 0.40, CADD 16.70
- F54S (p.Phe54Ser), TOPMed rs1300205903, gnomAD rs1300205903, REVEL 0.90, CADD 29.30
- S56L (p.Ser56Leu), cosmic curated COSV55117
- L57P (p.Leu57Pro), rs2467967614, ClinGen CA349193847, ClinVar RCV002972485, Uncertain significance, not provided
- S58T (p.Ser58Thr), ExAC rs779531410, gnomAD rs779531410
- I59F (p.Ile59Phe), gnomAD rs1296302175, REVEL 0.48, CADD 19.40
- I59M (p.Ile59Met), Ensembl rs1559052859
- I59V (p.Ile59Val), gnomAD rs1296302175, REVEL 0.23, CADD 17.20
- N60S (p.Asn60Ser), NCI-TCGA Cosmic COSV5512, cosmic curated COSV55120, Variant assessed as somatic; moderate impact.
- N60T (p.Asn60Thr), Ensembl rs764639349
- D61G (p.Asp61Gly), ExAC rs748590407, gnomAD rs748590407, REVEL 0.51, CADD 22.80, Uncertain significance, not provided
- D61N (p.Asp61Asn), rs772534199, ClinGen CA59281061, ClinVar RCV001887657, TOPMed rs772534199, REVEL 0.33, CADD 22.20, Uncertain significance, not provided
- D61V (p.Asp61Val), ExAC rs748590407, gnomAD rs748590407, REVEL 0.74, CADD 24.00
- G62S (p.Gly62Ser), NCI-TCGA Cosmic COSV9971, cosmic curated COSV99717, Variant assessed as somatic; moderate impact.
- F63S (p.Phe63Ser), rs764818005, ClinGen CA1919208, ClinVar RCV003056149, ExAC rs764818005, REVEL 0.40, CADD 15.60, Likely benign, not provided
- H64Q (p.His64Gln), cosmic curated COSV55121
- V65F (p.Val65Phe), 1000Genomes rs370028017, ESP rs370028017, ExAC rs370028017, TOPMed rs370028017, REVEL 0.57, CADD 22.20, Benign
- V65I (p.Val65Ile), rs370028017, ClinGen CA1919206, cosmic curated COSV55116, ClinVar RCV002631244, REVEL 0.27, CADD 20.60, Benign, not provided
- Q67R (p.Gln67Arg), cosmic curated COSV55123
- G69V (p.Gly69Val), NCI-TCGA Cosmic COSV5511, cosmic curated COSV55119, Variant assessed as somatic; moderate impact.
- F71L (p.Phe71Leu), rs2467967384, ClinGen CA349193754, ClinVar RCV002818008, REVEL 0.30, CADD 20.80, Uncertain significance, Inborn genetic diseases
- E75G (p.Glu75Gly), TOPMed rs1176995618, gnomAD rs1176995618, REVEL 0.91, CADD 29.30
- E75V (p.Glu75Val), TOPMed rs1176995618, gnomAD rs1176995618
- Q76H (p.Gln76His), cosmic curated COSV55119, REVEL 0.62, CADD 18.10
- Q76L (p.Gln76Leu), cosmic curated COSV55119
- Q76P (p.Gln76Pro), ExAC rs763961607, gnomAD rs763961607, REVEL 0.91, CADD 28.50
- Q76R (p.Gln76Arg), ExAC rs763961607, gnomAD rs763961607
- G77R (p.Gly77Arg), Ensembl rs1686463535
- K78E (p.Lys78Glu), gnomAD rs1240600134, REVEL 0.48, CADD 22.70
- M79I (p.Met79Ile), rs1403278698, TOPMed rs1403278698, REVEL 0.55, CADD 22.80, Variant assessed as somatic; moderate impact.
- M79T (p.Met79Thr), rs2467967263, ClinGen CA349193679, ClinVar RCV003543549, Uncertain significance, not provided
- T80P (p.Thr80Pro), Ensembl rs1574056407
- C81F (p.Cys81Phe), cosmic curated COSV10962
- C81R (p.Cys81Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C81Y (p.Cys81Tyr), NCI-TCGA Cosmic COSV9971, cosmic curated COSV99718, REVEL 0.94, CADD 26.20, Variant assessed as somatic; moderate impact.
- K82E (p.Lys82Glu), Ensembl rs1354910596
- T83N (p.Thr83Asn), rs2467967165, ClinGen CA349193622, ClinVar RCV003838468, ClinVar RCV006307464, REVEL 0.62, CADD 23.80, Uncertain significance, Inborn genetic diseases; not provided
- T83P (p.Thr83Pro), Ensembl rs1574056379
- P84L (p.Pro84Leu), rs775537696, ClinGen CA1919204, ClinVar RCV001928161, ClinVar RCV002556364, REVEL 0.59, CADD 23.00, Uncertain significance, not provided; Inborn genetic diseases
- P84Q (p.Pro84Gln), rs775537696, ClinGen CA1919203, ClinVar RCV003860033, ExAC rs775537696, REVEL 0.60, CADD 22.80, Uncertain significance, not provided
- P85L (p.Pro85Leu), cosmic curated COSV55122, TOPMed rs1329223493, REVEL 0.61, CADD 23.10
- P85S (p.Pro85Ser), cosmic curated COSV10962, REVEL 0.45, CADD 21.50
- S86F (p.Ser86Phe), ExAC rs773459224, TOPMed rs773459224, gnomAD rs773459224, REVEL 0.63, CADD 22.80
- P87L (p.Pro87Leu), TOPMed rs1036913529, gnomAD rs1036913529, REVEL 0.37, CADD 22.70
- P87T (p.Pro87Thr), rs1686461170, ClinGen CA349193577, ClinVar RCV002981804, ClinVar RCV005099021, REVEL 0.25, CADD 19.40, Uncertain significance, Inborn genetic diseases; not provided
- G88D (p.Gly88Asp), cosmic curated COSV55122
- G88V (p.Gly88Val), NCI-TCGA Cosmic COSV5512, cosmic curated COSV55121, Variant assessed as somatic; moderate impact.
- Q89R (p.Gln89Arg), TOPMed rs1033271814, gnomAD rs1033271814, REVEL 0.49, CADD 22.40
- A90T (p.Ala90Thr), gnomAD rs1377494192
- V91M (p.Val91Met), rs1686460106, ClinGen CA349193528, ClinVar RCV003489733, TOPMed rs1686460106, REVEL 0.65, CADD 23.70, Uncertain significance, not specified
- E92K (p.Glu92Lys), rs2467966984, ClinGen CA349193516, ClinVar RCV003880397, REVEL 0.55, CADD 22.50, Uncertain significance, not provided
- C94* (p.Cys94Ter), cosmic curated COSV55121
- Q95* (p.Gln95Ter), TOPMed rs1686459853
- Q95R (p.Gln95Arg), gnomAD rs1367397338, REVEL 0.33, CADD 21.30
- G96E (p.Gly96Glu), rs373678733, ClinGen CA59281056, ClinVar RCV003672417, ESP rs373678733, Uncertain significance, not provided
- G96R (p.Gly96Arg), ExAC rs748419133, gnomAD rs748419133, REVEL 0.54, CADD 22.50
- W98* (p.Trp98Ter), ExAC rs769135409, gnomAD rs769135409, CADD 37.00
- W98R (p.Trp98Arg), cosmic curated COSV55115, REVEL 0.51, CADD 24.30
- C99S (p.Cys99Ser), TOPMed rs1686458822, gnomAD rs1686458822, REVEL 0.97, CADD 27.20
- N100D (p.Asn100Asp), cosmic curated COSV55120
- N100S (p.Asn100Ser), ExAC rs747439148, gnomAD rs747439148, REVEL 0.84, CADD 25.60
- R101G (p.Arg101Gly), ExAC rs780585007, TOPMed rs780585007, gnomAD rs780585007, REVEL 0.23, CADD 21.00, Uncertain significance, not provided
- R101K (p.Arg101Lys), cosmic curated COSV10962
- R101T (p.Arg101Thr), ESP rs369211520, TOPMed rs369211520
- N102S (p.Asn102Ser), Ensembl rs2105280955
- T104M (p.Thr104Met), rs758925804, ClinGen CA1919192, cosmic curated COSV10801, ClinVar RCV002572390, REVEL 0.74, CADD 24.00, Uncertain significance, not provided
- A105T (p.Ala105Thr), cosmic curated COSV55121
- A105V (p.Ala105Val), rs2467966792, ClinGen CA349193319, ClinVar RCV003043904, Uncertain significance, not provided
- Q106* (p.Gln106Ter), cosmic curated COSV55116
- Q106H (p.Gln106His), ESP rs376138658, ExAC rs376138658, TOPMed rs376138658, gnomAD rs376138658, REVEL 0.26, CADD 16.20, Uncertain significance, Inborn genetic diseases
- Q106P (p.Gln106Pro), TOPMed rs1686456996, gnomAD rs1686456996, REVEL 0.46, CADD 19.10
- P108S (p.Pro108Ser), gnomAD rs1423804322, REVEL 0.55, CADD 23.40
- K112N (p.Lys112Asn), rs138808563, ClinGen CA1919174, ClinVar RCV002785433, ESP rs138808563, REVEL 0.17, CADD 5.32, Likely benign, not provided
- K112T (p.Lys112Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S113T (p.Ser113Thr), TOPMed rs1303422236, gnomAD rs1303422236, REVEL 0.15, CADD 15.30
- S113Y (p.Ser113Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P115H (p.Pro115His), cosmic curated COSV99717
- P115S (p.Pro115Ser), cosmic curated COSV55124, UniProt VAR 041395, REVEL 0.14, CADD 16.10, Uncertain significance, not provided
- Q118H (p.Gln118His), NCI-TCGA TCGA novel, REVEL 0.22, CADD 21.60, Variant assessed as somatic; moderate impact.
- H121L (p.His121Leu), cosmic curated COSV10639, gnomAD rs1265994310, REVEL 0.21, CADD 17.40
- H121N (p.His121Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H121R (p.His121Arg), rs1265994310, ClinGen CA349193092, ClinVar RCV003378393, REVEL 0.17, CADD 16.90, Uncertain significance, Inborn genetic diseases
- H121Y (p.His121Tyr), rs756858830, ClinGen CA1919172, ClinVar RCV001091995, ClinVar RCV005359865, REVEL 0.24, CADD 17.50, Uncertain significance, Inborn genetic diseases; not provided; Congenital heart disease
- L122S (p.Leu122Ser), rs2467962145, ClinGen CA349193084, ClinVar RCV003693718, REVEL 0.28, CADD 22.80, Uncertain significance, not provided
- E123G (p.Glu123Gly), Ensembl rs1686372746
- E123K (p.Glu123Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V124A (p.Val124Ala), TOPMed rs1278430564, gnomAD rs1278430564, REVEL 0.28, CADD 22.20
- V124F (p.Val124Phe), ExAC rs748870121, gnomAD rs748870121, REVEL 0.28, CADD 16.80
- V124G (p.Val124Gly), TOPMed rs1278430564, gnomAD rs1278430564, REVEL 0.35, CADD 22.80
- I127V (p.Ile127Val), TOPMed rs1277715491, gnomAD rs1277715491, REVEL 0.18, CADD 16.30
- I128F (p.Ile128Phe), gnomAD rs1400837052, REVEL 0.44, CADD 24.30
- I128M (p.Ile128Met), cosmic curated COSV10504
- L129F (p.Leu129Phe), ExAC rs755755509, REVEL 0.27, CADD 20.50
- L129V (p.Leu129Val), cosmic curated COSV10962
- S130C (p.Ser130Cys), rs1342623415, ClinGen CA349193032, ClinVar RCV003022751, Uncertain significance, not provided
- S130F (p.Ser130Phe), gnomAD rs1342623415, REVEL 0.26, CADD 23.10
- V131A (p.Val131Ala), NCI-TCGA Cosmic COSV9971, cosmic curated COSV99718, gnomAD rs1686371118, REVEL 0.34, CADD 22.20, Variant assessed as somatic; moderate impact.
- V131I (p.Val131Ile), ExAC rs767431486, gnomAD rs767431486, REVEL 0.20, CADD 17.20
- V132A (p.Val132Ala), ExAC rs74905152, TOPMed rs74905152, gnomAD rs74905152, REVEL 0.36, CADD 22.80, Uncertain significance, not provided
Public ACVR1 analysis runs
- ACVR1 analysis run — ACVR1 (875 variants) — completed 2026-08-21