EGFR (Epidermal growth factor receptor) variants and mutations
EGFR (also known as Epidermal growth factor receptor) is a human protein-coding gene encoding an epidermal growth factor receptor protein. A cell-surface receptor tyrosine kinase that responds to epidermal-growth-factor family ligands. Ligand binding activates phosphorylation cascades that regulate cell growth, survival, and differentiation, which is why EGFR changes are important in cancer biology. This analysis covers 5,559 EGFR variants and mutations. Of these, 48% have computational variant effect predictions. Disease context includes non-small cell lung carcinoma, lung adenocarcinoma, and cancer. Example EGFR variants include R2*, R2G, and R2L.
Variant analysis overview
- Gene: EGFR
- Protein: Epidermal growth factor receptor
- UniProt accession: P00533
- Organism: Homo sapiens
- Variants analyzed: 5559
- Variant scope: all variants
- Completed: 2026-07-23
Variant and mutation evidence
- Variant composition: 5,409 unspecified-consequence records; 82 synonymous variants; 44 missense variants; 8 frameshift variants; 3 in-frame deletions; 2 stop-gained variants; 3 splice-region variants; 2 in-frame insertions; 6 substitution
- Prediction scores: 2,692 variants have prediction scores (48% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: non-small cell lung carcinoma, lung adenocarcinoma, cancer, head and neck squamous cell carcinoma, lung cancer, breast cancer, colorectal adenocarcinoma, glioblastoma, neoplasm, inflammatory skin and bowel disease, neonatal, 2, head and neck cancer, colorectal cancer.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 4 binding sites; 38 post-translational modification sites.
- Structural context: 1,326 variants have structural context.
- PTM context: 171 variants overlap post-translational modification sites.
- Experimental data: 420 protein positions have experimental scores. Source: EGFR gefitinib PC9 cells, Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequence).
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 EGFR variants
Examples include R2*, R2G, R2L, R2P, R2Q, R2R, P3A, P3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R2* (p.Arg2Ter), Ensembl rs2128853275, CADD 35.00
- R2G (p.Arg2Gly), Ensembl rs2128853275, MetaLR 0.27, MetaSVM -0.89
- R2L (p.Arg2Leu), Ensembl rs2128853278, REVEL 0.24, MetaLR 0.35, Uncertain significance
- R2P (p.Arg2Pro), Ensembl rs2128853278, REVEL 0.35, MetaLR 0.43, Uncertain significance
- R2Q (p.Arg2Gln), rs2128853278, ClinGen CA367611170, cosmic curated COSV51794, ClinVar RCV001937606, REVEL 0.26, MetaLR 0.35, Uncertain significance
- R2R (p.Arg2Arg), rs2128853275, gnomAD 7-55019281-C-A, CADD 11.40
- P3A (p.Pro3Ala), rs773069229, ClinGen CA367611174, ClinVar RCV001324494, ExAC rs773069229, AlphaMissense 0.07, MetaLR 0.35, Uncertain significance
- P3H (p.Pro3His), ExAC rs749433287, TOPMed rs749433287, gnomAD rs749433287, REVEL 0.26, MetaLR 0.41, Uncertain significance
- P3L (p.Pro3Leu), rs749433287, ClinGen CA4265097, ClinVar RCV001316898, ClinVar RCV005038069, REVEL 0.17, MetaLR 0.32, Likely benign
- P3S (p.Pro3Ser), rs773069229, ClinGen CA367611173, ClinVar RCV002039847, ClinVar RCV005552443, REVEL 0.18, AlphaMissense 0.07, Likely benign
- P3T (p.Pro3Thr), ExAC rs773069229, TOPMed rs773069229, gnomAD rs773069229, REVEL 0.20, AlphaMissense 0.07, Uncertain significance
- P3P (p.Pro3Pro), rs2128853293, gnomAD 7-55019286-C-A, CADD 9.74
- S4C (p.Ser4Cys), rs771210838, ClinGen CA367611181, ClinVar RCV001880915, ExAC rs771210838, REVEL 0.19, MetaLR 0.43, Uncertain significance
- S4F (p.Ser4Phe), rs771210838, ClinGen CA4265098, ClinVar RCV001934060, ExAC rs771210838, REVEL 0.13, MetaLR 0.35, Uncertain significance
- S4P (p.Ser4Pro), Ensembl rs2128853297, REVEL 0.21, MetaLR 0.37
- S4T (p.Ser4Thr), Ensembl rs2128853297
- S4Y (p.Ser4Tyr), rs771210838, ClinGen CA367611180, ClinVar RCV001230654, ClinVar RCV005809481, REVEL 0.13, MetaLR 0.35, Likely benign
- S4S (p.Ser4Ser), rs1171634506, gnomAD 7-55019289-C-G, CADD 2.95
- G5A (p.Gly5Ala), rs759582787, ClinGen CA367611184, cosmic curated COSV51833, ClinVar RCV001372918, REVEL 0.18, MetaLR 0.34, Uncertain significance
- G5E (p.Gly5Glu), rs759582787, ClinGen CA4265100, ClinVar RCV002013262, ExAC rs759582787, REVEL 0.16, MetaLR 0.46, Uncertain significance
- G5R (p.Gly5Arg), rs774487133, ExAC rs774487133, gnomAD rs774487133, ClinGen CA4265099, REVEL 0.16, MetaLR 0.40, Uncertain significance
- G5W (p.Gly5Trp), ExAC rs774487133, gnomAD rs774487133, REVEL 0.32, MetaLR 0.54, Uncertain significance
- G5V (p.Gly5Val), gnomAD 7-55019291-G-T, REVEL 0.33, MetaLR 0.58
- G5G (p.Gly5Gly), rs2128853324, gnomAD 7-55019292-G-A, CADD 9.55
- T6A (p.Thr6Ala), rs767651648, ClinGen CA4265101, ClinVar RCV001338455, ClinVar RCV005328249, REVEL 0.14, MetaLR 0.18, Likely benign
- T6M (p.Thr6Met), Ensembl rs2128853330, REVEL 0.20, MetaLR 0.29
- T6P (p.Thr6Pro), ExAC rs767651648, TOPMed rs767651648, gnomAD rs767651648, Uncertain significance
- T6R (p.Thr6Arg), Ensembl rs2128853330
- T6S (p.Thr6Ser), ExAC rs767651648, TOPMed rs767651648, gnomAD rs767651648, MetaLR 0.28, MetaSVM -0.83, Uncertain significance
- T6K (p.Thr6Lys), gnomAD 7-55019294-C-A, REVEL 0.13, MetaLR 0.31
- T6T (p.Thr6Thr), rs775964175, gnomAD 7-55019295-G-T, CADD 4.00
- A7D (p.Ala7Asp), rs1786367350, ClinGen CA367611192, ClinVar RCV001210508, ClinVar RCV005328588, REVEL 0.23, MetaLR 0.30, Uncertain significance
- A7G (p.Ala7Gly), Ensembl rs1786367350, REVEL 0.17, MetaLR 0.23, Uncertain significance
- A7P (p.Ala7Pro), rs761183109, ClinGen CA4265103, ClinVar RCV001051412, ClinVar RCV002258107, REVEL 0.31, MetaLR 0.30, Uncertain significance
- A7S (p.Ala7Ser), ExAC rs761183109, TOPMed rs761183109, gnomAD rs761183109, REVEL 0.12, MetaLR 0.29, Uncertain significance
- A7T (p.Ala7Thr), NCI-TCGA TCGA novel, ExAC rs761183109, TOPMed rs761183109, gnomAD rs761183109, REVEL 0.11, MetaLR 0.27, Uncertain significance
- A7V (p.Ala7Val), Ensembl rs1786367350, REVEL 0.15, MetaLR 0.31, Uncertain significance
- A7A (p.Ala7Ala), rs369581368, gnomAD 7-55019298-C-T, CADD 3.75
- G8A (p.Gly8Ala), Ensembl rs1786368377, REVEL 0.20, MetaLR 0.38, Uncertain significance
- G8E (p.Gly8Glu), rs1786368377, ClinGen CA367611197, ClinVar RCV003881789, ClinVar RCV006382227, REVEL 0.32, MetaLR 0.33, Uncertain significance
- G8R (p.Gly8Arg), rs754259847, ClinGen CA367611195, ClinVar RCV001338900, ClinVar RCV005330713, REVEL 0.10, MetaLR 0.25, Likely benign
- G8V (p.Gly8Val), Ensembl rs1786368377, REVEL 0.21, MetaLR 0.40, Uncertain significance
- G8W (p.Gly8Trp), ExAC rs754259847, TOPMed rs754259847, gnomAD rs754259847, REVEL 0.34, MetaLR 0.48, Uncertain significance
- G8G (p.Gly8Gly), gnomAD 7-55019301-G-T, CADD 2.62
- A9E (p.Ala9Glu), TOPMed rs1583835979, REVEL 0.46, MetaLR 0.36
- A9G (p.Ala9Gly), TOPMed rs1583835979, MetaLR 0.35, MetaSVM -0.80
- A9S (p.Ala9Ser), rs2128853368, ClinGen CA367611202, ClinVar RCV002903744, REVEL 0.10, MetaLR 0.33, Uncertain significance
- A9T (p.Ala9Thr), rs2128853368, ClinGen CA367611200, ClinVar RCV003651400, ClinVar RCV005325800, REVEL 0.15, MetaLR 0.25, Likely benign
- A9V (p.Ala9Val), TOPMed rs1583835979, REVEL 0.17, MetaLR 0.34
- A9Q (p.Ala9Gln), gnomAD 7-55019298-CG-C, CADD 21.60
- A9P (p.Ala9Pro), gnomAD 7-55019302-G-C, REVEL 0.18, MetaLR 0.35
- A9A (p.Ala9Ala), rs1786368960, gnomAD 7-55019304-A-G, CADD 10.80
- A10E (p.Ala10Glu), rs1217714114, ClinGen CA367611209, ClinVar RCV001967818, ClinVar RCV005331064, REVEL 0.51, MetaLR 0.36, Uncertain significance
- A10G (p.Ala10Gly), rs1217714114, ClinGen CA367611210, ClinVar RCV001202789, TOPMed rs1217714114, REVEL 0.18, MetaLR 0.31, Uncertain significance, EGFR-related lung cancer
- A10S (p.Ala10Ser), Ensembl rs2128853375, REVEL 0.14, MetaLR 0.32, Uncertain significance
- A10T (p.Ala10Thr), rs2128853375, ClinGen CA367611206, ClinVar RCV003649687, Ensembl rs2128853375, REVEL 0.13, MetaLR 0.30, Uncertain significance, EGFR-related lung cancer
- A10V (p.Ala10Val), TOPMed rs1217714114, gnomAD rs1217714114, REVEL 0.17, MetaLR 0.35, Uncertain significance
- A10A (p.Ala10Ala), rs757936561, gnomAD 7-55019307-G-C, CADD 9.28
- L11F (p.Leu11Phe), rs1786369664, ClinGen CA367611214, ClinVar RCV001907822, ClinVar RCV002305629, REVEL 0.20, MetaLR 0.30, Uncertain significance
- L11P (p.Leu11Pro), TOPMed rs1786369861, REVEL 0.55, MetaLR 0.58
- L11V (p.Leu11Val), gnomAD 7-55019308-C-G, REVEL 0.20, MetaLR 0.26
- L11I (p.Leu11Ile), gnomAD 7-55019308-C-A, REVEL 0.16, MetaLR 0.32
- L11L (p.Leu11Leu), gnomAD 7-55019310-C-A, CADD 5.62
- L12M (p.Leu12Met), TOPMed rs1786370184, REVEL 0.35, MetaLR 0.54
- L12P (p.Leu12Pro), Ensembl rs2128853389, REVEL 0.57, MetaLR 0.50
- p.Leu12 Leu18del, rs2128853380, gnomAD 7-55019304-AGCGCT, CADD 17.00
- L12R (p.Leu12Arg), gnomAD 7-55019311-CT-C, CADD 20.80
- L12L (p.Leu12Leu), rs1786370184, gnomAD 7-55019311-C-T, CADD 9.27
- L12Q (p.Leu12Gln), gnomAD 7-55019312-T-A, REVEL 0.56, MetaLR 0.44
- A13E (p.Ala13Glu), rs567894670, ClinGen CA367611226, cosmic curated COSV10729, ClinVar RCV003822410, REVEL 0.37, MetaLR 0.37, Likely benign
- A13P (p.Ala13Pro), Ensembl rs2128853391, MetaLR 0.33, MetaSVM -0.77, Uncertain significance
- A13S (p.Ala13Ser), Ensembl rs2128853391, REVEL 0.10, MetaLR 0.27, Uncertain significance
- A13T (p.Ala13Thr), rs2128853391, ClinGen CA367611225, cosmic curated COSV51797, ClinVar RCV003860780, REVEL 0.20, MetaLR 0.33, Uncertain significance
- A13V (p.Ala13Val), rs567894670, ClinGen CA4265108, ClinVar RCV001064016, ClinVar RCV004950227, REVEL 0.18, MetaLR 0.26, Likely benign
- A13G (p.Ala13Gly), gnomAD 7-55019315-C-G, REVEL 0.23, MetaLR 0.27
- A13A (p.Ala13Ala), rs1010599071, gnomAD 7-55019316-G-A, CADD 10.90
- L14P (p.Leu14Pro), Ensembl rs2128853404, REVEL 0.49, MetaLR 0.47
- L14Q (p.Leu14Gln), Ensembl rs2128853404, REVEL 0.62, MetaLR 0.53
- L14R (p.Leu14Arg), Ensembl rs2128853404, MetaLR 0.53, MetaSVM -0.23
- p.Leu14 Ala16del, gnomAD 7-55019303-CAGCGC, CADD 13.80
- L14M (p.Leu14Met), gnomAD 7-55019317-C-A, REVEL 0.28, MetaLR 0.50
- L14L (p.Leu14Leu), gnomAD 7-55019317-C-T, CADD 10.70
- L15Q (p.Leu15Gln), Ensembl rs2128853414
- L15R (p.Leu15Arg), Ensembl rs2128853414, MetaLR 0.65, MetaSVM -0.13
- L15W (p.Leu15Trp), gnomAD 7-55019318-TG-T, CADD 24.00
- L15M (p.Leu15Met), gnomAD 7-55019320-C-A, REVEL 0.34, MetaLR 0.62
- L15L (p.Leu15Leu), gnomAD 7-55019320-C-T, CADD 11.90
- L15P (p.Leu15Pro), gnomAD 7-55019321-T-C, REVEL 0.65, MetaLR 0.65
- A16G (p.Ala16Gly), Ensembl rs2128853431, REVEL 0.19, MetaLR 0.25
- A16P (p.Ala16Pro), Ensembl rs2128853424, MetaLR 0.37, MetaSVM -0.62, Uncertain significance
- A16S (p.Ala16Ser), rs2128853424, ClinGen CA367611240, ClinVar RCV001361666, Ensembl rs2128853424, REVEL 0.10, MetaLR 0.30, Uncertain significance
- A16T (p.Ala16Thr), cosmic curated COSV51794, Ensembl rs2128853424, REVEL 0.15, MetaLR 0.30, Uncertain significance
- A16V (p.Ala16Val), Ensembl rs2128853431, REVEL 0.13, MetaLR 0.27
- A16L (p.Ala16Leu), gnomAD 7-55019321-TG-T, CADD 22.60
- A16D (p.Ala16Asp), gnomAD 7-55019324-C-A, REVEL 0.53, MetaLR 0.33
- A16A (p.Ala16Ala), rs1786371037, gnomAD 7-55019325-T-C, CADD 5.81
- A17G (p.Ala17Gly), TOPMed rs1180577495, gnomAD rs1180577495, REVEL 0.13, MetaLR 0.29
- A17V (p.Ala17Val), cosmic curated COSV51792, TOPMed rs1180577495, gnomAD rs1180577495, REVEL 0.08, MetaLR 0.30
- A17T (p.Ala17Thr), gnomAD 7-55019326-G-A, REVEL 0.11, MetaLR 0.32
- A17S (p.Ala17Ser), gnomAD 7-55019326-G-T, REVEL 0.09, MetaLR 0.25
- A17E (p.Ala17Glu), gnomAD 7-55019327-C-A, REVEL 0.41, MetaLR 0.31
- A17A (p.Ala17Ala), rs1786371421, gnomAD 7-55019328-G-A, CADD 9.80
- L18F (p.Leu18Phe), rs754527029, ClinGen CA4265109, ClinVar RCV001042316, ClinVar RCV005821865, REVEL 0.15, MetaLR 0.35, Likely benign
- L18H (p.Leu18His), Ensembl rs2128853447
- L18I (p.Leu18Ile), ExAC rs754527029, gnomAD rs754527029, REVEL 0.15, MetaLR 0.37, Uncertain significance
- L18P (p.Leu18Pro), Ensembl rs2128853447, REVEL 0.48, MetaLR 0.29
- L18V (p.Leu18Val), ExAC rs754527029, gnomAD rs754527029, MetaLR 0.42, MetaSVM -0.29, Uncertain significance
- L18L (p.Leu18Leu), rs1488769073, gnomAD 7-55019331-C-T, CADD 7.31
- C19* (p.Cys19Ter), Ensembl rs866936692, CADD 32.00
- C19S (p.Cys19Ser), rs780865931, ClinGen CA4265110, ClinVar RCV002662477, ExAC rs780865931, REVEL 0.12, MetaLR 0.33, Uncertain significance
- C19Y (p.Cys19Tyr), ExAC rs780865931, gnomAD rs780865931, REVEL 0.22, MetaLR 0.31, Uncertain significance
- C19R (p.Cys19Arg), gnomAD 7-55019332-T-C, REVEL 0.14, MetaLR 0.33
- C19F (p.Cys19Phe), gnomAD 7-55019333-G-T, REVEL 0.20, MetaLR 0.28
- C19C (p.Cys19Cys), rs866936692, gnomAD 7-55019334-C-T, CADD 7.84
- C19W (p.Cys19Trp), gnomAD 7-55019334-C-G, REVEL 0.21, MetaLR 0.38
- P20A (p.Pro20Ala), Ensembl rs2128853462, MetaLR 0.15, MetaSVM -0.82
- P20L (p.Pro20Leu), rs1028735720, ClinGen CA367611266, ClinVar RCV001345638, ClinVar RCV005330726, REVEL 0.10, MetaLR 0.21, Likely benign
- P20Q (p.Pro20Gln), rs1028735720, ClinGen CA159566183, ClinVar RCV000987871, ClinVar RCV001244454, REVEL 0.12, MetaLR 0.17, Likely benign
- P20R (p.Pro20Arg), rs1028735720, ClinGen CA367611265, ClinVar RCV001988619, ClinVar RCV005331106, REVEL 0.10, MetaLR 0.19, Likely benign
- P20S (p.Pro20Ser), Ensembl rs2128853462, REVEL 0.09, MetaLR 0.18
- P20T (p.Pro20Thr), Ensembl rs2128853462, REVEL 0.09, MetaLR 0.24
- P20P (p.Pro20Pro), rs1391110463, gnomAD 7-55019337-G-A, CADD 5.00
- A21E (p.Ala21Glu), TOPMed rs1194702075, gnomAD rs1194702075, REVEL 0.39, MetaLR 0.33, Uncertain significance
- A21G (p.Ala21Gly), TOPMed rs1194702075, gnomAD rs1194702075, REVEL 0.12, MetaLR 0.32, Uncertain significance
- A21P (p.Ala21Pro), 1000Genomes rs373129709, ESP rs373129709, ExAC rs373129709, TOPMed rs373129709, MetaLR 0.37, MetaSVM -0.70, Benign
- A21S (p.Ala21Ser), rs373129709, ClinGen CA4265112, ClinVar RCV001207978, ClinVar RCV005821919, REVEL 0.15, MetaLR 0.28, Benign
- A21T (p.Ala21Thr), rs373129709, ClinGen CA4265111, ClinVar RCV001052362, ClinVar RCV003145300, REVEL 0.14, MetaLR 0.32, Benign
- A21V (p.Ala21Val), rs1194702075, ClinGen CA367611270, ClinVar RCV001946158, ClinVar RCV002258331, REVEL 0.20, MetaLR 0.31, Uncertain significance
- A21A (p.Ala21Ala), rs1421885942, gnomAD 7-55019340-G-T, CADD 11.00
- S22C (p.Ser22Cys), Ensembl rs2128853486, REVEL 0.21, MetaLR 0.34
- S22G (p.Ser22Gly), Ensembl rs2128853486, REVEL 0.10, MetaLR 0.18
- S22N (p.Ser22Asn), rs1257423707, ClinGen CA367611276, ClinVar RCV003649500, TOPMed rs1257423707, REVEL 0.06, MetaLR 0.29, Uncertain significance
- S22R (p.Ser22Arg), Ensembl rs2128853494, MetaLR 0.27, MetaSVM -0.83, Likely benign
- S22I (p.Ser22Ile), gnomAD 7-55019342-G-T, REVEL 0.09, MetaLR 0.31
- S22T (p.Ser22Thr), gnomAD 7-55019342-G-C, REVEL 0.05, MetaLR 0.25
- S22S (p.Ser22Ser), rs2128853494, gnomAD 7-55019343-T-C, CADD 11.70
- R23G (p.Arg23Gly), TOPMed rs987102148, gnomAD rs987102148, MetaLR 0.13, MetaSVM -0.99, Likely benign
- R23L (p.Arg23Leu), Ensembl rs1786374080, REVEL 0.10, MetaLR 0.20, Uncertain significance
- R23P (p.Arg23Pro), rs1786374080, ClinGen CA367611281, ClinVar RCV003878639, ClinVar RCV005555075, REVEL 0.18, MetaLR 0.18, Uncertain significance
- R23Q (p.Arg23Gln), rs1786374080, ClinGen CA367611280, ClinVar RCV002993650, Ensembl rs1786374080, REVEL 0.10, MetaLR 0.18, Uncertain significance
- R23W (p.Arg23Trp), rs987102148, ClinGen CA159566184, cosmic curated COSV51807, ClinVar RCV002611256, REVEL 0.22, MetaLR 0.20, Likely benign
- R23R (p.Arg23Arg), rs987102148, gnomAD 7-55019344-C-A, CADD 9.66
- A24D (p.Ala24Asp), rs1786374464, ClinGen CA367611286, ClinVar RCV002014150, gnomAD rs1786374464, REVEL 0.40, MetaLR 0.44, Uncertain significance
- A24G (p.Ala24Gly), gnomAD rs1786374464, REVEL 0.19, MetaLR 0.35, Uncertain significance
- A24P (p.Ala24Pro), 1000Genomes rs911767401, TOPMed rs911767401, gnomAD rs911767401, MetaLR 0.42, MetaSVM -0.48, Uncertain significance
- A24T (p.Ala24Thr), rs911767401, ClinGen CA159566185, ClinVar RCV001234959, ClinVar RCV003456482, REVEL 0.11, MetaLR 0.32, Likely benign
- A24V (p.Ala24Val), gnomAD rs1786374464, REVEL 0.20, MetaLR 0.32, Uncertain significance
- A24L (p.Ala24Leu), gnomAD 7-55019344-CG-C, CADD 18.00
- A24S (p.Ala24Ser), gnomAD 7-55019347-G-T, REVEL 0.11, MetaLR 0.33
- A24A (p.Ala24Ala), rs1309426409, gnomAD 7-55019349-T-C, CADD 15.30
- L25M (p.Leu25Met), Ensembl rs2128853521, REVEL 0.14, MetaLR 0.33
- L25Q (p.Leu25Gln), Ensembl rs2128853524
- L25V (p.Leu25Val), cosmic curated COSV51862, Ensembl rs2128853521, MetaLR 0.23, MetaSVM -0.93
- L25L (p.Leu25Leu), rs2128853521, gnomAD 7-55019350-C-T, CADD 13.90
- L25P (p.Leu25Pro), gnomAD 7-55019351-T-C, REVEL 0.20, MetaLR 0.33
- E26G (p.Glu26Gly), rs2128853534, ClinGen CA367611297, ClinVar RCV002662880, Ensembl rs2128853534, REVEL 0.27, MetaLR 0.52, Uncertain significance
- E26Q (p.Glu26Gln), Ensembl rs2128853530
- E26V (p.Glu26Val), Ensembl rs2128853534, REVEL 0.39, MetaLR 0.51, Uncertain significance
- E26R (p.Glu26Arg), gnomAD 7-55019351-TG-T, CADD 27.50
- E26K (p.Glu26Lys), gnomAD 7-55019353-G-A, REVEL 0.34, MetaLR 0.27
- E26* (p.Glu26Ter), gnomAD 7-55019353-G-T, CADD 41.00
- E26E (p.Glu26Glu), rs777385414, gnomAD 7-55019355-G-A, CADD 14.50
- E26D (p.Glu26Asp), gnomAD 7-55019355-G-T, REVEL 0.15, MetaLR 0.34
- E27K (p.Glu27Lys), cosmic curated COSV10729, Ensembl rs1583836261, REVEL 0.25, MetaLR 0.41
- E27* (p.Glu27Ter), gnomAD 7-55019356-G-T, CADD 40.00
- E27G (p.Glu27Gly), gnomAD 7-55019357-A-G, REVEL 0.26, MetaLR 0.46
- E27E (p.Glu27Glu), rs2128853538, gnomAD 7-55019358-A-G, CADD 13.90
- K28E (p.Lys28Glu), ExAC rs749088691, gnomAD rs749088691, REVEL 0.27, MetaLR 0.38
- K28R (p.Lys28Arg), Ensembl rs2128853543, REVEL 0.16, MetaLR 0.31
- K28T (p.Lys28Thr), rs2128853543, ClinGen CA367611311, ClinVar RCV002996570, REVEL 0.28, MetaLR 0.41, Uncertain significance
- K28M (p.Lys28Met), gnomAD 7-55019360-A-T, REVEL 0.41, MetaLR 0.53
- K28K (p.Lys28Lys), rs770673046, gnomAD 7-55019361-G-A, CADD 15.80
- K28N (p.Lys28Asn), gnomAD 7-55019361-G-T, REVEL 0.23, MetaLR 0.41
- K29T (p.Lys29Thr), rs774551548, ClinGen CA4265116, ClinVar RCV001343204, ClinVar RCV006391932, REVEL 0.16, MetaLR 0.37, Uncertain significance
- K29E (p.Lys29Glu), gnomAD 7-55019362-A-G, REVEL 0.15, MetaLR 0.25
- K29Q (p.Lys29Gln), gnomAD 7-55019362-A-C, REVEL 0.15, MetaLR 0.33
- K29R (p.Lys29Arg), gnomAD 7-55019363-A-G, REVEL 0.16, MetaLR 0.34
- K29K (p.Lys29Lys), rs2128853550, gnomAD 7-55019364-A-G, CADD 22.70
- K29N (p.Lys29Asn), gnomAD 7-55019364-A-T, REVEL 0.18, MetaLR 0.37
- V30A (p.Val30Ala), rs1794501851, ClinGen CA367574045, ClinVar RCV001309195, Ensembl rs1794501851, AlphaMissense 0.67, MetaLR 0.66, Uncertain significance
Public EGFR analysis runs
- EGFR analysis run — EGFR (5,559 variants) — completed 2026-07-23
- EGFR analysis run — EGFR (5,559 variants) — completed 2026-06-22
- EGFR analysis run — EGFR (5,556 variants) — completed 2026-05-15