PDGFRA (P16234) variants and mutations
PDGFRA (also known as P16234) is a human protein-coding gene encoding a platelet-derived growth factor receptor alpha protein. PDGF signaling through this pathway promotes proliferation, survival, and migration of mesenchymal progenitors. Activating mutations or fusions drive gastrointestinal stromal tumors and selected hematologic and solid malignancies and can create kinase-inhibitor sensitivity. This analysis covers 3,878 PDGFRA variants and mutations. Of these, 54% have computational variant effect predictions. Disease context includes gastrointestinal stromal tumor, GIST-plus syndrome, and neoplasm. Example PDGFRA variants include M1L, M1R, and M1V.
Variant analysis overview
- Gene: PDGFRA
- Protein: P16234
- UniProt accession: P16234
- Organism: Homo sapiens
- Variants analyzed: 3878
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 3,721 unspecified-consequence records; 89 synonymous variants; 52 missense variants; 9 frameshift variants; 3 stop-gained variants; 2 splice-region variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 2,112 variants have prediction scores (54% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: gastrointestinal stromal tumor, GIST-plus syndrome, neoplasm, acute myeloid leukemia, cancer, soft tissue sarcoma, sarcoma, renal cell carcinoma, idiopathic pulmonary fibrosis, non-small cell lung carcinoma, colorectal cancer, interstitial lung disease.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 6 domains; 2 binding sites; 19 post-translational modification sites.
- Structural context: 3,155 variants have structural context.
- PTM context: 65 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 PDGFRA variants
Examples include M1L, M1R, M1V, M1N, M1T, M1I, G2A, G2E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs1722515609, ClinGen CA356888034, ClinVar RCV003640229, AlphaMissense 0.10, MetaLR 0.58, Uncertain significance, Gastrointestinal stromal tumor
- M1R (p.Met1Arg), rs1722515777, ClinGen CA356888035, ClinVar RCV001040922, AlphaMissense 0.17, MetaLR 0.59, Uncertain significance, Gastrointestinal stromal tumor
- M1V (p.Met1Val), rs1722515609, ClinGen CA356888033, ClinVar RCV003639676, AlphaMissense 0.10, MetaLR 0.58, Uncertain significance, Gastrointestinal stromal tumor
- M1N (p.Met1Asn), gnomAD 4-54240086-C-CA, CADD 3.17
- M1T (p.Met1Thr), rs1002658010, gnomAD 4-54240090-T-C, CADD 1.33
- M1I (p.Met1Ile), gnomAD 4-54240091-G-T, CADD 0.57
- G2A (p.Gly2Ala), rs2110235021, ClinGen CA356888045, ClinVar RCV004523960, AlphaMissense 0.12, MetaLR 0.56, Uncertain significance, Hereditary cancer-predisposing syndrome
- G2E (p.Gly2Glu), rs2110235021, ClinGen CA356888044, ClinVar RCV001961963, ClinVar RCV002359312, AlphaMissense 0.12, MetaLR 0.56, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- G2R (p.Gly2Arg), rs1722515922, ClinGen CA356888041, cosmic curated COSV10508, ClinVar RCV001047724, REVEL 0.14, MetaLR 0.51, Uncertain significance, not provided; Gastrointestinal stromal tumor
- G2W (p.Gly2Trp), Ensembl rs1722515922, MetaLR 0.42, MetaSVM -0.11, Uncertain significance
- T3I (p.Thr3Ile), Ensembl rs2110235027, REVEL 0.03, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome
- T3S (p.Thr3Ser), rs2110235027, ClinGen CA356888052, ClinVar RCV002376342, ClinVar RCV003103551, AlphaMissense 0.09, MetaLR 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- T3T (p.Thr3Thr), rs2110235036, gnomAD 4-54258777-T-C, CADD 6.93
- S4A (p.Ser4Ala), rs2475411858, ClinGen CA356888055, ClinVar RCV002796567, Uncertain significance, Gastrointestinal stromal tumor
- S4C (p.Ser4Cys), rs138929755, ClinGen CA2922193, cosmic curated COSV10585, ClinVar RCV000633792, REVEL 0.03, MetaLR 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- S4F (p.Ser4Phe), rs138929755, ClinGen CA356888056, cosmic curated COSV10585, ClinVar RCV000545506, REVEL 0.02, MetaLR 0.29, Uncertain significance, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- S4Y (p.Ser4Tyr), rs138929755, ClinGen CA2922194, ClinVar RCV000705127, ClinVar RCV004569387, REVEL 0.03, MetaLR 0.28, Uncertain significance, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- S4P (p.Ser4Pro), rs1721218317, gnomAD 4-54240077-T-C, CADD 15.20
- S4S (p.Ser4Ser), gnomAD 4-54240079-C-T, CADD 13.50
- H5L (p.His5Leu), ExAC rs776018656, gnomAD rs776018656, REVEL 0.08, AlphaMissense 0.06, Uncertain significance
- H5P (p.His5Pro), rs776018656, ClinGen CA356888060, ClinVar RCV003638335, NCI-TCGA TCGA novel, AlphaMissense 0.06, MetaLR 0.16, Uncertain significance, Gastrointestinal stromal tumor
- H5R (p.His5Arg), rs776018656, ClinGen CA356888061, ClinVar RCV001059317, ClinVar RCV002393286, AlphaMissense 0.06, MetaLR 0.16, Uncertain significance, Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- H5Y (p.His5Tyr), rs2475411960, ClinGen CA356888058, ClinVar RCV004523910, ClinVar RCV005100529, Uncertain significance, Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- H5I (p.His5Ile), gnomAD 4-54258778-TC-T, CADD 23.00
- H5N (p.His5Asn), gnomAD 4-54258781-C-A, REVEL 0.06, CADD 13.20
- P6A (p.Pro6Ala), ExAC rs759019262, gnomAD rs759019262
- P6L (p.Pro6Leu), rs754092062, ClinGen CA2922197, cosmic curated COSV57271, ClinVar RCV000234684, REVEL 0.04, MetaLR 0.16, Conflicting interpretations, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Idiopathi
- P6Q (p.Pro6Gln), NCI-TCGA Cosmic COSV5726, cosmic curated COSV57269, NCI-TCGA Cosmic COSV5727, REVEL 0.05, MetaLR 0.11, Variant assessed as somatic; moderate impact.
- P6S (p.Pro6Ser), cosmic curated COSV57271, ExAC rs759019262, gnomAD rs759019262, MetaLR 0.17, MetaSVM -0.99
- P6T (p.Pro6Thr), ExAC rs759019262, gnomAD rs759019262, REVEL 0.02, MetaLR 0.17
- P6H (p.Pro6His), gnomAD 4-54240060-C-A, CADD 11.10
- P6P (p.Pro6Pro), gnomAD 4-54240061-T-C, CADD 11.10
- P6R (p.Pro6Arg), gnomAD 4-54258783-TC-T, CADD 9.60
- A7E (p.Ala7Glu), rs764472307, ClinGen CA356888071, cosmic curated COSV57265, ClinVar RCV000633759, REVEL 0.22, MetaLR 0.43, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- A7S (p.Ala7Ser), rs1467619698, ClinGen CA356888070, ClinVar RCV001223496, ClinVar RCV004768938, REVEL 0.02, MetaLR 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- A7T (p.Ala7Thr), NCI-TCGA Cosmic COSV5726, cosmic curated COSV57266, MetaLR 0.18, MetaSVM -0.99, Variant assessed as somatic; moderate impact.
- A7V (p.Ala7Val), rs764472307, ClinGen CA2922200, cosmic curated COSV99956, ClinVar RCV000232147, REVEL 0.05, MetaLR 0.20, Conflicting interpretations, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- A7L (p.Ala7Leu), gnomAD 4-54240080-TG-T, CADD 8.08
- A7P (p.Ala7Pro), rs1355420070, gnomAD 4-54240083-G-C, CADD 7.67
- A7D (p.Ala7Asp), gnomAD 4-54240084-C-A, CADD 5.46
- A7A (p.Ala7Ala), gnomAD 4-54240085-T-C, CADD 7.18
- F8L (p.Phe8Leu), NCI-TCGA TCGA novel, MetaLR 0.14, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- F8Y (p.Phe8Tyr), gnomAD 4-54258791-T-A, REVEL 0.12, CADD 21.60
- L9P (p.Leu9Pro), rs1722518582, ClinGen CA356888084, ClinVar RCV001223933, ClinVar RCV004944903, AlphaMissense 0.12, MetaLR 0.52, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- L9V (p.Leu9Val), rs375117626, ClinGen CA356888082, ClinVar RCV001992266, ESP rs375117626, AlphaMissense 0.07, MetaLR 0.49, Uncertain significance, Gastrointestinal stromal tumor
- L9L (p.Leu9Leu), rs1240272977, gnomAD 4-54240056-C-T, CADD 12.20
- L9M (p.Leu9Met), gnomAD 4-54240056-C-A, CADD 8.73
- L9S (p.Leu9Ser), gnomAD 4-54240072-T-C, CADD 14.40
- L9F (p.Leu9Phe), gnomAD 4-54240073-G-T, CADD 14.60
- V10A (p.Val10Ala), rs781404006, ClinGen CA356888089, ClinVar RCV001971543, ExAC rs781404006, REVEL 0.04, MetaLR 0.24, Uncertain significance, Gastrointestinal stromal tumor
- V10D (p.Val10Asp), ExAC rs781404006, gnomAD rs781404006, REVEL 0.20, MetaLR 0.38, Uncertain significance
- V10I (p.Val10Ile), rs1060501519, ClinGen CA16611451, ClinVar RCV000460861, ClinVar RCV004022638, REVEL 0.05, MetaLR 0.14, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- V10S (p.Val10Ser), gnomAD 4-54240066-TG-T, CADD 11.60
- V10F (p.Val10Phe), gnomAD 4-54240068-G-T, CADD 13.40
- V10V (p.Val10Val), gnomAD 4-54240070-C-T, CADD 14.10
- G12A (p.Gly12Ala), rs1440200916, ClinGen CA356888101, ClinVar RCV001339045, ClinVar RCV003154000, AlphaMissense 0.09, MetaLR 0.33, Conflicting interpretations, Gastrointestinal stromal tumor; Ovarian cancer
- G12D (p.Gly12Asp), TOPMed rs1440200916, gnomAD rs1440200916, REVEL 0.22, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome
- G12S (p.Gly12Ser), rs2110235287, ClinGen CA356888097, ClinVar RCV003527544, Ensembl rs2110235287, AlphaMissense 0.09, MetaLR 0.24, Uncertain significance, Gastrointestinal stromal tumor
- G12V (p.Gly12Val), rs1440200916, ClinGen CA356888102, ClinVar RCV002299508, TOPMed rs1440200916, REVEL 0.14, AlphaMissense 0.09, Uncertain significance, Gastrointestinal stromal tumor
- G12G (p.Gly12Gly), rs750539044, gnomAD 4-54258804-C-T, CADD 12.40
- C13Y (p.Cys13Tyr), gnomAD rs1227672940, REVEL 0.06, MetaLR 0.24, Uncertain significance, Hereditary cancer-predisposing syndrome
- C13R (p.Cys13Arg), gnomAD 4-54240095-T-C, CADD 2.15
- C13S (p.Cys13Ser), gnomAD 4-54240096-G-C, CADD 1.50
- C13* (p.Cys13Ter), gnomAD 4-54240097-C-A, CADD 2.27
- C13C (p.Cys13Cys), gnomAD 4-54240097-C-T, CADD 4.57
- L14F (p.Leu14Phe), rs1722520036, ClinGen CA356888113, ClinVar RCV001061222, ClinVar RCV003473678, REVEL 0.06, AlphaMissense 0.06, Uncertain significance, Gastrointestinal stromal tumor; Polyps, multiple and recurrent inflammatory fibr
- L14I (p.Leu14Ile), rs1722520036, ClinGen CA356888111, ClinVar RCV001315089, Ensembl rs1722520036, AlphaMissense 0.06, MetaLR 0.28, Uncertain significance, Gastrointestinal stromal tumor
- L15F (p.Leu15Phe), rs1577701660, ClinGen CA356888117, ClinVar RCV000802248, TOPMed rs1577701660, AlphaMissense 0.06, MetaLR 0.39, Uncertain significance, Gastrointestinal stromal tumor
- L15P (p.Leu15Pro), rs1286350038, ClinGen CA356888120, ClinVar RCV001244945, ClinVar RCV002327595, REVEL 0.28, MetaLR 0.59, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- L15M (p.Leu15Met), gnomAD 4-54240098-C-A, CADD 2.40
- L15L (p.Leu15Leu), rs1187389437, gnomAD 4-54240098-C-T, CADD 4.48
- T16A (p.Thr16Ala), TOPMed rs587778596, gnomAD rs587778596, REVEL 0.05, MetaLR 0.22, Benign
- T16I (p.Thr16Ile), rs1722521033, ClinGen CA356888125, ClinVar RCV001216274, Ensembl rs1722521033, AlphaMissense 0.13, MetaLR 0.31, Uncertain significance, Hereditary cancer-predisposing syndrome
- T16S (p.Thr16Ser), rs587778596, ClinGen CA161411, ClinVar RCV000121786, ClinVar RCV000461163, REVEL 0.04, MetaLR 0.18, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- T16K (p.Thr16Lys), gnomAD 4-54258815-C-A, REVEL 0.15, CADD 22.80
- G17E (p.Gly17Glu), rs766600687, ClinGen CA356888143, cosmic curated COSV57277, ClinVar RCV001958100, REVEL 0.18, MetaLR 0.34, Uncertain significance, Gastrointestinal stromal tumor
- G17R (p.Gly17Arg), cosmic curated COSV57271, Ensembl rs2110235398, MetaLR 0.53, MetaSVM -0.01
- G17V (p.Gly17Val), rs766600687, ClinGen CA2922226, ClinVar RCV000540572, ClinVar RCV003380601, REVEL 0.18, MetaLR 0.51, Conflicting interpretations, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- G17G (p.Gly17Gly), gnomAD 4-54261096-G-C, CADD 13.60
- L18=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- L18L (p.Leu18Leu), rs1553902340, gnomAD 4-54261099-G-A, CADD 5.33
- S19C (p.Ser19Cys), Ensembl rs2110241608
- S19I (p.Ser19Ile), NCI-TCGA Cosmic COSV5726, cosmic curated COSV57264, MetaLR 0.22, MetaSVM -0.94, Variant assessed as somatic; moderate impact.
- S19S (p.Ser19Ser), rs2110241617, gnomAD 4-54261102-C-T, CADD 12.50
- L20V (p.Leu20Val), rs1553902342, ClinGen CA356888159, cosmic curated COSV10585, ClinVar RCV000633814, AlphaMissense 0.07, MetaLR 0.22, Uncertain significance, Gastrointestinal stromal tumor
- L20I (p.Leu20Ile), gnomAD 4-54261103-C-A, REVEL 0.08, CADD 17.50
- L20L (p.Leu20Leu), rs1060504253, gnomAD 4-54261105-A-G, CADD 1.54
- I21M (p.Ile21Met), rs2475421105, ClinGen CA356888169, ClinVar RCV002354123, Uncertain significance, Hereditary cancer-predisposing syndrome
- I21T (p.Ile21Thr), TOPMed rs1334714267, gnomAD rs1334714267, REVEL 0.08, MetaLR 0.17
- I21V (p.Ile21Val), gnomAD 4-54240092-A-G, CADD 2.94
- I21S (p.Ile21Ser), gnomAD 4-54240093-T-G, CADD 3.38
- I21I (p.Ile21Ile), gnomAD 4-54240094-C-A, CADD 4.17
- L22F (p.Leu22Phe), rs975510328, ClinGen CA96847142, ClinVar RCV000543350, ClinVar RCV005398782, REVEL 0.06, AlphaMissense 0.05, Conflicting interpretations, Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- L22V (p.Leu22Val), rs975510328, ClinGen CA356888171, ClinVar RCV003048941, AlphaMissense 0.05, MetaLR 0.19, Uncertain significance, Gastrointestinal stromal tumor
- L22P (p.Leu22Pro), gnomAD 4-54261110-T-C, REVEL 0.09, CADD 13.00
- L22L (p.Leu22Leu), gnomAD 4-54261111-C-T, CADD 10.80
- C23* (p.Cys23Ter), NCI-TCGA Cosmic COSV5726, Variant assessed as somatic; high impact.
- C23G (p.Cys23Gly), 1000Genomes rs561082994, ExAC rs561082994, gnomAD rs561082994, REVEL 0.15, MetaLR 0.30
- C23Y (p.Cys23Tyr), Ensembl rs2110241676, MetaLR 0.46, MetaSVM -0.21
- Q24K (p.Gln24Lys), gnomAD 4-54240086-C-A, CADD 5.18
- Q24* (p.Gln24Ter), gnomAD 4-54240086-C-T, CADD 6.56
- Q24R (p.Gln24Arg), gnomAD 4-54240087-A-G, CADD 7.27
- Q24Q (p.Gln24Gln), rs971169534, gnomAD 4-54240088-A-G, CADD 4.18
- Q24H (p.Gln24His), gnomAD 4-54240106-G-T, CADD 1.12
- S26* (p.Ser26Ter), NCI-TCGA Cosmic COSV5727, NCI-TCGA Cosmic COSV9995, cosmic curated COSV99957, Variant assessed as somatic; high impact.
- S26S (p.Ser26Ser), rs1577704945, gnomAD 4-54261123-A-T, CADD 2.75
- L27F (p.Leu27Phe), rs529666430, ClinGen CA356888207, ClinVar RCV003639816, 1000Genomes rs529666430, REVEL 0.02, MetaLR 0.02, Uncertain significance, Gastrointestinal stromal tumor
- L27S (p.Leu27Ser), rs758425314, ClinGen CA2922228, ClinVar RCV001027180, ExAC rs758425314, REVEL 0.22, MetaLR 0.07, Benign, Hereditary cancer-predisposing syndrome
- p.Leu27dup, rs1560466532, gnomAD 4-54261122-C-CATT, CADD 13.10
- L27L (p.Leu27Leu), rs529666430, gnomAD 4-54261126-A-G, CADD 0.92
- P28H (p.Pro28His), NCI-TCGA Cosmic COSV9995, cosmic curated COSV99956, Variant assessed as somatic; moderate impact.
- P28R (p.Pro28Arg), Ensembl rs1377805967
- P28S (p.Pro28Ser), rs2475421264, ClinGen CA356888210, ClinVar RCV003054311, Uncertain significance, Gastrointestinal stromal tumor
- P28T (p.Pro28Thr), gnomAD 4-54240110-C-A, CADD 2.96
- P28L (p.Pro28Leu), gnomAD 4-54240111-C-T, CADD 1.83
- P28P (p.Pro28Pro), gnomAD 4-54240112-C-A, CADD 2.78
- S29A (p.Ser29Ala), rs746846673, ClinGen CA356888215, ClinVar RCV002588603, AlphaMissense 0.50, MetaLR 0.07, Uncertain significance, Gastrointestinal stromal tumor
- S29F (p.Ser29Phe), rs587778600, ClinGen CA161429, ClinVar RCV000121792, ClinVar RCV001854668, REVEL 0.15, MetaLR 0.11, Uncertain significance, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- S29P (p.Ser29Pro), rs746846673, ClinGen CA2922230, ClinVar RCV001209372, ClinVar RCV002447072, REVEL 0.10, AlphaMissense 0.50, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- S29S (p.Ser29Ser), gnomAD 4-54261132-T-C, CADD 3.78
- I30T (p.Ile30Thr), rs1437048036, ClinGen CA356888222, ClinVar RCV001341083, TOPMed rs1437048036, REVEL 0.37, MetaLR 0.17, Uncertain significance, Gastrointestinal stromal tumor
- I30V (p.Ile30Val), rs780747709, ClinGen CA2922231, ClinVar RCV000472004, ClinVar RCV001018477, REVEL 0.06, MetaLR 0.06, Conflicting interpretations, not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn
- I30I (p.Ile30Ile), gnomAD 4-54261135-C-T, CADD 10.30
- L31F (p.Leu31Phe), cosmic curated COSV10722, Ensembl rs2110241807
- L31P (p.Leu31Pro), rs2110241819, ClinGen CA356888228, ClinVar RCV002019551, Ensembl rs2110241819, AlphaMissense 0.67, MetaLR 0.07, Uncertain significance, Gastrointestinal stromal tumor
- P32T (p.Pro32Thr), rs936241714, ClinGen CA16611453, cosmic curated COSV57273, ClinVar RCV000466810, REVEL 0.40, MetaLR 0.22, Uncertain significance, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- P32P (p.Pro32Pro), rs1722679549, gnomAD 4-54261141-A-C, CADD 1.95
- N33Y (p.Asn33Tyr), rs200979664, ClinGen CA161426, cosmic curated COSV57268, ClinVar RCV000121791, REVEL 0.11, MetaLR 0.11, Conflicting interpretations, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; not provi
- N33T (p.Asn33Thr), rs1290070962, gnomAD 4-54240072-TG-T, CADD 12.60
- N33D (p.Asn33Asp), gnomAD 4-54240074-A-G, CADD 14.60
- N33S (p.Asn33Ser), rs1484218141, gnomAD 4-54240075-A-G, CADD 14.10
- N33K (p.Asn33Lys), gnomAD 4-54240076-C-A, CADD 13.00
- N33N (p.Asn33Asn), gnomAD 4-54240076-C-T, CADD 13.00
- E34A (p.Glu34Ala), rs2475421452, ClinGen CA356888246, ClinVar RCV004523904, ClinVar RCV006564864, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- E34K (p.Glu34Lys), NCI-TCGA Cosmic COSV5726, cosmic curated COSV57268, MetaLR 0.02, MetaSVM -0.95, Variant assessed as somatic; moderate impact.
- E34G (p.Glu34Gly), gnomAD 4-54261146-A-G, REVEL 0.08, CADD 21.70
- E34E (p.Glu34Glu), gnomAD 4-54261147-A-G, CADD 2.21
- N35D (p.Asn35Asp), rs769386190, ClinGen CA2922232, ClinVar RCV000470819, ClinVar RCV002393111, REVEL 0.04, MetaLR 0.00, Conflicting interpretations, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- N35S (p.Asn35Ser), rs2475421476, ClinGen CA356888253, ClinVar RCV002400981, Uncertain significance, Hereditary cancer-predisposing syndrome
- E36V (p.Glu36Val), rs2475421481, ClinGen CA356888260, ClinVar RCV002424232, Uncertain significance, Gastrointestinal stromal tumor
- K37N (p.Lys37Asn), rs1553902353, ClinGen CA356888272, ClinVar RCV000633808, ClinVar RCV002438668, REVEL 0.04, MetaLR 0.06, Uncertain significance, Gastrointestinal stromal tumor
- K37T (p.Lys37Thr), NCI-TCGA TCGA novel, MetaLR 0.04, MetaSVM -1.06, Uncertain significance, Gastrointestinal stromal tumor
- K37S (p.Lys37Ser), gnomAD 4-54240109-TC-T, CADD 1.14
- K37E (p.Lys37Glu), gnomAD 4-54240113-A-G, CADD 5.08
- K37R (p.Lys37Arg), rs1015757958, gnomAD 4-54240114-A-G, CADD 8.88
- K37K (p.Lys37Lys), rs2110186594, gnomAD 4-54240115-G-A, CADD 18.70
- V38A (p.Val38Ala), rs773405650, ClinGen CA96847175, ClinVar RCV001350350, gnomAD rs773405650, REVEL 0.14, MetaLR 0.12, Uncertain significance, Gastrointestinal stromal tumor
- V38D (p.Val38Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V38I (p.Val38Ile), rs1560466594, ClinGen CA356888273, ClinVar RCV000706455, ClinVar RCV002325431, REVEL 0.02, AlphaMissense 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- V38L (p.Val38Leu), rs1560466594, ClinGen CA356888274, ClinVar RCV001244930, ClinVar RCV002322159, AlphaMissense 0.22, MetaLR 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- V38V (p.Val38Val), rs774990928, gnomAD 4-54261159-T-G, CADD 2.25
- V39L (p.Val39Leu), rs1553902356, ClinGen CA356888279, ClinVar RCV003527592, AlphaMissense 0.26, MetaLR 0.14, Uncertain significance, Gastrointestinal stromal tumor
- V39M (p.Val39Met), rs1553902356, ClinGen CA356888278, ClinVar RCV000633757, ClinVar RCV002358776, REVEL 0.16, AlphaMissense 0.26, Uncertain significance, Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- V39V (p.Val39Val), rs1722681244, gnomAD 4-54261162-G-A, CADD 10.60
- Q40* (p.Gln40Ter), Ensembl rs2110241947
- Q40L (p.Gln40Leu), NCI-TCGA TCGA novel, MetaLR 0.04, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- Q40R (p.Gln40Arg), ExAC rs769214355, gnomAD rs769214355, REVEL 0.03, MetaLR 0.04, Uncertain significance, Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- L41P (p.Leu41Pro), rs1341010273, ClinGen CA356888294, ClinVar RCV000633798, gnomAD rs1341010273, REVEL 0.20, MetaLR 0.03, Uncertain significance, Gastrointestinal stromal tumor
- L41Q (p.Leu41Gln), rs1341010273, ClinGen CA356888293, ClinVar RCV004523906, ClinVar RCV005100528, REVEL 0.22, MetaLR 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- L41M (p.Leu41Met), gnomAD 4-54261166-C-A, REVEL 0.15, CADD 23.60
- L41L (p.Leu41Leu), rs1722681640, gnomAD 4-54261166-C-T, CADD 12.50
- N42D (p.Asn42Asp), gnomAD 4-54261169-A-G, REVEL 0.11, CADD 22.40
- S43S (p.Ser43Ser), rs1225730075, gnomAD 4-54261174-A-G, CADD 3.32
- S44C (p.Ser44Cys), ExAC rs774911799, TOPMed rs774911799, gnomAD rs774911799
- S44F (p.Ser44Phe), ExAC rs774911799, TOPMed rs774911799, gnomAD rs774911799, REVEL 0.20, MetaLR 0.01
- S44Y (p.Ser44Tyr), gnomAD 4-54261176-C-A, REVEL 0.19, MetaLR 0.01
- S44S (p.Ser44Ser), rs2110242010, gnomAD 4-54261177-C-T, CADD 11.80
- F45L (p.Phe45Leu), rs149408217, ClinGen CA2922237, cosmic curated COSV10585, ClinVar RCV000474628, REVEL 0.30, MetaLR 0.00, Conflicting interpretations, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- F45F (p.Phe45Phe), rs1222829140, gnomAD 4-54261180-T-C, CADD 12.20
- S46C (p.Ser46Cys), Ensembl rs777307941, REVEL 0.31, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- S46F (p.Ser46Phe), Ensembl rs777307941, Uncertain significance, Hereditary cancer-predisposing syndrome
- S46T (p.Ser46Thr), rs1722683067, ClinGen CA356888322, ClinVar RCV001059029, Ensembl rs1722683067, AlphaMissense 0.08, MetaLR 0.01, Uncertain significance, Gastrointestinal stromal tumor
- S46Y (p.Ser46Tyr), NCI-TCGA Cosmic COSV9995, cosmic curated COSV99957, Uncertain significance, Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- L47M (p.Leu47Met), gnomAD rs1265352306, Likely benign
- L47V (p.Leu47Val), gnomAD rs1265352306, MetaLR 0.02, MetaSVM -1.20, Uncertain significance, Gastrointestinal stromal tumor
- L47L (p.Leu47Leu), rs1265352306, gnomAD 4-54261184-C-T, CADD 13.30
- L47R (p.Leu47Arg), gnomAD 4-54261185-T-G, REVEL 0.48, MetaLR 0.04
- R48S (p.Arg48Ser), rs1553902375, ClinGen CA356888337, ClinVar RCV000633805, TOPMed rs1553902375, AlphaMissense 0.53, MetaLR 0.02, Uncertain significance, Gastrointestinal stromal tumor
- R48I (p.Arg48Ile), rs2110186408, gnomAD 4-54240063-G-T, CADD 11.80
- R48R (p.Arg48Arg), gnomAD 4-54240064-A-G, CADD 14.20
Public PDGFRA analysis runs
- PDGFRA analysis run — PDGFRA (3,878 variants) — completed 2026-08-18