MET (P08581) variants and mutations
MET (also known as P08581) is a human protein-coding gene encoding a hepatocyte growth factor receptor protein. Hepatocyte-growth-factor signaling through this pathway promotes cell survival, proliferation, motility, and invasive growth during development and tissue repair. Exon 14 skipping, amplification, activating mutations, or fusions can drive cancer and create actionable therapeutic dependencies. This analysis covers 6,533 MET variants and mutations. Of these, 40% have computational variant effect predictions. Disease context includes papillary renal cell carcinoma, hereditary papillary renal cell carcinoma, and hepatocellular carcinoma. Example MET variants include M1?, K2*, and K2E.
Variant analysis overview
- Gene: MET
- Protein: P08581
- UniProt accession: P08581
- Organism: Homo sapiens
- Variants analyzed: 6533
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 6,294 unspecified-consequence records; 38 missense variants; 181 synonymous variants; 9 frameshift variants; 4 in-frame deletions; 1 in-frame insertions; 1 stop-gained variants; 5 substitution
- Prediction scores: 2,624 variants have prediction scores (40% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: papillary renal cell carcinoma, hereditary papillary renal cell carcinoma, hepatocellular carcinoma, renal cell carcinoma, non-small cell lung carcinoma, neoplasm, medullary thyroid gland carcinoma, listeriosis, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, arthrogryposis, distal, IIa 11, autosomal recessive nonsyndromic hearing loss 97.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 5 domains; 2 binding sites; 27 post-translational modification sites.
- Structural context: 4,936 variants have structural context.
- PTM context: 126 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 MET variants
Examples include M1?, K2*, K2E, K2N, K2R, K2K, A3D, A3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K2* (p.Lys2Ter), Ensembl rs2116577619, Uncertain significance
- K2E (p.Lys2Glu), Ensembl rs2116577619, Uncertain significance, Hereditary cancer-predisposing syndrome
- K2N (p.Lys2Asn), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10057, NCI-TCGA Cosmic COSV5926, Ensembl rs2116577641, CADD 8.68, SIFT 0.21, Variant assessed as somatic; moderate impact.
- K2R (p.Lys2Arg), gnomAD 7-116695773-A-G, CADD 9.27, SIFT 0.74
- K2K (p.Lys2Lys), rs80048442, gnomAD 7-116695774-G-A, CADD 5.84
- A3D (p.Ala3Asp), Ensembl rs1797064164, Uncertain significance, Hereditary cancer-predisposing syndrome
- A3G (p.Ala3Gly), Ensembl rs1797064164, REVEL 0.09, MetaLR 0.36, Uncertain significance
- A3S (p.Ala3Ser), gnomAD rs1416393044, Likely benign
- A3T (p.Ala3Thr), rs1416393044, ClinGen CA368968152, ClinVar RCV001044012, ClinVar RCV004031340, REVEL 0.07, MetaLR 0.32, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- A3V (p.Ala3Val), rs1797064164, ClinGen CA368968157, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10057, REVEL 0.11, MetaLR 0.41, Conflicting interpretations, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- P4H (p.Pro4His), cosmic curated COSV10738, Ensembl rs2116577769
- P4L (p.Pro4Leu), Ensembl rs2116577769, REVEL 0.06, MetaLR 0.18, Uncertain significance, Hereditary cancer-predisposing syndrome
- P4R (p.Pro4Arg), Ensembl rs2116577769
- P4S (p.Pro4Ser), cosmic curated COSV10942, Ensembl rs2116577747, Uncertain significance, Renal cell carcinoma
- P4P (p.Pro4Pro), rs772251895, gnomAD 7-116699096-C-T, CADD 0.75
- A5G (p.Ala5Gly), Ensembl rs2116577850
- A5P (p.Ala5Pro), ExAC rs765444467, TOPMed rs765444467, gnomAD rs765444467, Benign
- A5S (p.Ala5Ser), rs765444467, ClinGen CA4447930, ClinVar RCV002389249, ExAC rs765444467, REVEL 0.07, MetaLR 0.23, Uncertain significance, Hereditary cancer-predisposing syndrome
- A5T (p.Ala5Thr), rs765444467, ClinGen CA4447929, cosmic curated COSV10462, ClinVar RCV000529240, REVEL 0.02, MetaLR 0.14, Conflicting interpretations, Renal cell carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Heredita
- V6A (p.Val6Ala), TOPMed rs950885374, gnomAD rs950885374, Uncertain significance
- V6E (p.Val6Glu), TOPMed rs950885374, gnomAD rs950885374, Uncertain significance
- V6G (p.Val6Gly), rs950885374, ClinGen CA164887563, ClinVar RCV003764428, TOPMed rs950885374, REVEL 0.14, MetaLR 0.27, Uncertain significance, Renal cell carcinoma
- V6L (p.Val6Leu), rs1395233386, TOPMed rs1395233386, gnomAD rs1395233386, ClinGen CA368968170, REVEL 0.08, MetaLR 0.23, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- V6M (p.Val6Met), rs1395233386, ClinGen CA368968168, ClinVar RCV002406302, ClinVar RCV003097137, REVEL 0.09, MetaLR 0.27, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- L7F (p.Leu7Phe), Ensembl rs2116578008, REVEL 0.07, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- L7P (p.Leu7Pro), Ensembl rs2116578040
- L7V (p.Leu7Val), Ensembl rs2116578008
- L7L (p.Leu7Leu), gnomAD 7-116695780-A-G, CADD 12.30
- A8G (p.Ala8Gly), Ensembl rs2116578119
- A8P (p.Ala8Pro), ExAC rs758564871, TOPMed rs758564871, gnomAD rs758564871, Benign
- A8S (p.Ala8Ser), rs758564871, ClinGen CA368968180, ClinVar RCV004523564, ExAC rs758564871, AlphaMissense 0.10, MetaLR 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome
- A8T (p.Ala8Thr), rs758564871, ClinGen CA4447931, ClinVar RCV000568281, ClinVar RCV000628725, REVEL 0.07, AlphaMissense 0.10, Conflicting interpretations, Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- A8V (p.Ala8Val), Ensembl rs2116578119
- A8E (p.Ala8Glu), rs1157251036, gnomAD 7-116695782-C-A, CADD 12.00, SIFT 0.05
- P9A (p.Pro9Ala), Ensembl rs2116578170, Uncertain significance
- P9L (p.Pro9Leu), rs1355886011, ClinGen CA368968189, ClinVar RCV001303661, ClinVar RCV005660094, REVEL 0.21, MetaLR 0.49, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- P9R (p.Pro9Arg), TOPMed rs1355886011, gnomAD rs1355886011, Uncertain significance
- P9S (p.Pro9Ser), rs2116578170, ClinGen CA368968184, ClinVar RCV002026963, Ensembl rs2116578170, AlphaMissense 0.12, MetaLR 0.29, Uncertain significance, Renal cell carcinoma
- P9T (p.Pro9Thr), rs2116578170, ClinGen CA368968185, cosmic curated COSV59256, ClinVar RCV002019146, AlphaMissense 0.12, MetaLR 0.29, Uncertain significance, Renal cell carcinoma
- P9H (p.Pro9His), gnomAD 7-116695791-TC-T, CADD 1.05
- P9Q (p.Pro9Gln), gnomAD 7-116695794-C-A, CADD 2.01, SIFT 0.11
- P9P (p.Pro9Pro), rs1324572782, gnomAD 7-116695795-A-G, CADD 7.32
- G10A (p.Gly10Ala), Ensembl rs919828654, Uncertain significance
- G10D (p.Gly10Asp), rs919828654, ClinGen CA164887586, cosmic curated COSV59262, ClinVar RCV001246324, REVEL 0.20, MetaLR 0.52, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- G10R (p.Gly10Arg), Ensembl rs2116578256
- G10S (p.Gly10Ser), Ensembl rs2116578256, REVEL 0.07, MetaLR 0.47
- G10V (p.Gly10Val), NCI-TCGA Cosmic COSV5926, Ensembl rs919828654, Uncertain significance
- I11F (p.Ile11Phe), Ensembl rs1584875601, Uncertain significance
- I11L (p.Ile11Leu), Ensembl rs1584875601, Uncertain significance
- I11M (p.Ile11Met), Ensembl rs2116578386
- I11N (p.Ile11Asn), Ensembl rs2116578367
- I11T (p.Ile11Thr), Ensembl rs2116578367
- I11V (p.Ile11Val), rs1584875601, ClinGen CA368968196, ClinVar RCV002234216, ClinVar RCV004639354, REVEL 0.01, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- I11K (p.Ile11Lys), gnomAD 7-116699082-AT-A, CADD 9.76
- L12F (p.Leu12Phe), rs764455004, ClinGen CA4447932, ClinVar RCV001947130, ClinVar RCV002334765, REVEL 0.12, AlphaMissense 0.08, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- L12H (p.Leu12His), Ensembl rs2116578440
- L12I (p.Leu12Ile), rs764455004, ClinGen CA368968202, ClinVar RCV003238617, ExAC rs764455004, AlphaMissense 0.08, MetaLR 0.25, Uncertain significance, not provided
- L12P (p.Leu12Pro), Ensembl rs2116578440
- L12L (p.Leu12Leu), rs188625702, gnomAD 7-116699120-C-T, CADD 1.52
- V13A (p.Val13Ala), rs748776466, ClinGen CA4447935, ClinVar RCV002366408, ClinVar RCV003464459, REVEL 0.14, MetaLR 0.32, Uncertain significance, Autosomal recessive nonsyndromic hearing loss 97; Hereditary cancer-predisposing
- V13E (p.Val13Glu), ExAC rs748776466, TOPMed rs748776466, gnomAD rs748776466, Uncertain significance
- V13G (p.Val13Gly), ExAC rs748776466, TOPMed rs748776466, gnomAD rs748776466, Uncertain significance
- V13L (p.Val13Leu), rs781777052, ClinGen CA368968208, cosmic curated COSV59272, ClinVar RCV002363961, REVEL 0.09, MetaLR 0.19, Uncertain significance, Renal cell carcinoma
- V13M (p.Val13Met), rs781777052, ClinGen CA4447934, ClinVar RCV000476283, ClinVar RCV000572036, REVEL 0.06, MetaLR 0.24, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Renal cell carcinoma
- L14F (p.Leu14Phe), rs763344951, ClinGen CA334069, cosmic curated COSV99041, ClinVar RCV000561286, REVEL 0.07, MetaLR 0.23, Conflicting interpretations, Renal cell carcinoma; Hepatocellular carcinoma; Papillary renal cell carcinoma t
- L14H (p.Leu14His), Ensembl rs2116578669
- L14V (p.Leu14Val), ExAC rs763344951, TOPMed rs763344951, gnomAD rs763344951, Likely benign
- L15P (p.Leu15Pro), rs2116578774, ClinGen CA368968219, ClinVar RCV002328696, Ensembl rs2116578774, REVEL 0.55, MetaLR 0.59, Uncertain significance, Hereditary cancer-predisposing syndrome
- L15Q (p.Leu15Gln), Ensembl rs2116578774, Uncertain significance
- L15R (p.Leu15Arg), Ensembl rs2116578774, Uncertain significance
- L15V (p.Leu15Val), Ensembl rs2116578733, Likely benign
- L15L (p.Leu15Leu), rs778415960, gnomAD 7-116699129-G-A, CADD 5.78
- F16C (p.Phe16Cys), rs2485504670, ClinGen CA368968224, ClinVar RCV003069436, ClinVar RCV003161717, Uncertain significance, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- F16I (p.Phe16Ile), Ensembl rs2116578836
- F16L (p.Phe16Leu), cosmic curated COSV59256
- F16V (p.Phe16Val), Ensembl rs2116578836
- F16S (p.Phe16Ser), gnomAD 7-116695791-T-C, CADD 10.40, SIFT 0.02
- T17I (p.Thr17Ile), rs747777018, ClinGen CA4447937, ClinVar RCV000823666, ClinVar RCV002336725, REVEL 0.10, AlphaMissense 0.09, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- T17N (p.Thr17Asn), ExAC rs747777018, gnomAD rs747777018, Uncertain significance
- T17S (p.Thr17Ser), rs747777018, ClinGen CA164887693, ClinVar RCV001023537, ClinVar RCV001223443, AlphaMissense 0.09, MetaLR 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- T17T (p.Thr17Thr), rs1584875653, gnomAD 7-116699135-C-T, CADD 9.71
- L18F (p.Leu18Phe), cosmic curated COSV59266, Ensembl rs2116579018, Uncertain significance, Hereditary cancer-predisposing syndrome
- L18M (p.Leu18Met), rs1260001540, ClinGen CA368968233, ClinVar RCV003211549, gnomAD rs1260001540, AlphaMissense 0.08, MetaLR 0.47, Uncertain significance, Hereditary cancer-predisposing syndrome
- L18S (p.Leu18Ser), Ensembl rs1562882830
- L18V (p.Leu18Val), rs1260001540, ClinGen CA368968234, ClinVar RCV003762268, gnomAD rs1260001540, AlphaMissense 0.08, MetaLR 0.47, Uncertain significance, Renal cell carcinoma
- L18L (p.Leu18Leu), rs1260001540, gnomAD 7-116699136-T-C, AlphaMissense 0.08, MetaLR 0.47
- L18W (p.Leu18Trp), gnomAD 7-116699137-T-G, REVEL 0.26, MetaLR 0.58
- V19A (p.Val19Ala), Ensembl rs2116579087
- V19E (p.Val19Glu), Ensembl rs2116579087
- V19G (p.Val19Gly), Ensembl rs2116579087
- V19L (p.Val19Leu), rs1486187704, ClinGen CA368968241, ClinVar RCV002300844, ClinVar RCV004047636, REVEL 0.07, MetaLR 0.23, Uncertain significance, Hereditary cancer-predisposing syndrome; Renal cell carcinoma; not provided
- V19M (p.Val19Met), gnomAD rs1486187704, Uncertain significance
- V19V (p.Val19Val), rs1584875673, gnomAD 7-116699141-G-A, CADD 7.64
- Q20* (p.Gln20Ter), Ensembl rs2116579143
- Q20E (p.Gln20Glu), Ensembl rs2116579143
- Q20H (p.Gln20His), cosmic curated COSV59258, Ensembl rs2116579231, Likely benign
- Q20K (p.Gln20Lys), rs2116579143, ClinGen CA368968248, ClinVar RCV003176387, AlphaMissense 0.10, MetaLR 0.36, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q20L (p.Gln20Leu), Ensembl rs2116579182
- Q20R (p.Gln20Arg), Ensembl rs2116579182, REVEL 0.10, MetaLR 0.21, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- R21G (p.Arg21Gly), rs2116579265, ClinGen CA368968254, ClinVar RCV003593400, AlphaMissense 0.12, MetaLR 0.32, Uncertain significance, Renal cell carcinoma
- R21K (p.Arg21Lys), rs964356368, ClinGen CA164887698, ClinVar RCV002255940, ClinVar RCV003094229, REVEL 0.04, MetaLR 0.11, Conflicting interpretations, not provided; Renal cell carcinoma; Autosomal recessive nonsyndromic hearing los
- R21M (p.Arg21Met), NCI-TCGA Cosmic COSV5926, cosmic curated COSV59260, TOPMed rs964356368, gnomAD rs964356368, Uncertain significance
- R21S (p.Arg21Ser), Ensembl rs2116579315, cosmic curated COSV10057
- R21T (p.Arg21Thr), TOPMed rs964356368, gnomAD rs964356368, Uncertain significance
- R21W (p.Arg21Trp), Ensembl rs2116579265, REVEL 0.14, AlphaMissense 0.12
- S22I (p.Ser22Ile), rs587780739, ClinGen CA332689, cosmic curated COSV10057, ClinVar RCV000123130, REVEL 0.14, MetaLR 0.38, Conflicting interpretations, Renal cell carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Heredita
- S22N (p.Ser22Asn), cosmic curated COSV59272, ExAC rs587780739, TOPMed rs587780739, gnomAD rs587780739, Benign
- S22R (p.Ser22Arg), rs773018125, ClinGen CA4447938, ClinVar RCV002676310, ExAC rs773018125, REVEL 0.17, MetaLR 0.30, Uncertain significance, Renal cell carcinoma
- S22T (p.Ser22Thr), ExAC rs587780739, TOPMed rs587780739, gnomAD rs587780739, Benign
- S22G (p.Ser22Gly), gnomAD 7-116695763-A-G, CADD 9.74, SIFT 0.01
- S22C (p.Ser22Cys), gnomAD 7-116695763-A-T, CADD 9.30, SIFT 0.01
- S22S (p.Ser22Ser), gnomAD 7-116695771-A-G, CADD 1.72
- N23I (p.Asn23Ile), Ensembl rs2116579413
- N23S (p.Asn23Ser), Ensembl rs2116579413, Uncertain significance, Hereditary cancer-predisposing syndrome
- N23Y (p.Asn23Tyr), Ensembl rs2116579402
- N23N (p.Asn23Asn), gnomAD 7-116699153-T-C, CADD 5.55
- G24A (p.Gly24Ala), 1000Genomes rs180985111, ESP rs180985111, ExAC rs180985111, TOPMed rs180985111, Likely benign
- G24E (p.Gly24Glu), rs180985111, ClinGen CA160439, ClinVar RCV000121347, ClinVar RCV000148614, REVEL 0.17, MetaLR 0.28, Conflicting interpretations, Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- G24R (p.Gly24Arg), TOPMed rs1797068456
- G24V (p.Gly24Val), cosmic curated COSV59267, 1000Genomes rs180985111, ESP rs180985111, ExAC rs180985111, Likely benign
- G24G (p.Gly24Gly), rs770829669, gnomAD 7-116699156-G-A, CADD 9.33
- E25* (p.Glu25Ter), rs2116579525, ClinGen CA368968280, ClinVar RCV001966027, ClinVar RCV005361876, Uncertain significance
- E25D (p.Glu25Asp), TOPMed rs925600985, Likely benign
- E25G (p.Glu25Gly), Ensembl rs2116579542
- E25K (p.Glu25Lys), rs2116579525, ClinGen CA368968278, ClinVar RCV002380523, REVEL 0.11, MetaLR 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome
- E25V (p.Glu25Val), Ensembl rs2116579542
- E25E (p.Glu25Glu), rs925600985, gnomAD 7-116699159-G-A, CADD 7.13
- C26G (p.Cys26Gly), Ensembl rs2116579595, Uncertain significance
- C26R (p.Cys26Arg), rs2116579595, ClinGen CA368968287, ClinVar RCV001883532, ClinVar RCV004945758, REVEL 0.61, MetaLR 0.59, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- C26S (p.Cys26Ser), Ensembl rs1584875719, Uncertain significance
- C26Y (p.Cys26Tyr), rs1584875719, ClinGen CA368968291, ClinVar RCV001026825, ClinVar RCV005056791, AlphaMissense 0.93, MetaLR 0.61, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- C26F (p.Cys26Phe), gnomAD 7-116695788-G-T, CADD 10.50, SIFT 0.00
- C26C (p.Cys26Cys), rs535507062, gnomAD 7-116695789-C-T, CADD 9.59
- K27* (p.Lys27Ter), rs2116579656, ClinGen CA368968296, ClinVar RCV001952945, Ensembl rs2116579656, AlphaMissense 0.09, MetaLR 0.18, Uncertain significance
- K27E (p.Lys27Glu), Ensembl rs2116579656, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- K27N (p.Lys27Asn), Ensembl rs2116579699
- K27R (p.Lys27Arg), rs2485505028, ClinGen CA2580076236, ClinVar RCV003033050, REVEL 0.06, MetaLR 0.17, Uncertain significance, Renal cell carcinoma
- E28D (p.Glu28Asp), rs759602956, ClinGen CA368968307, ClinVar RCV002031249, ExAC rs759602956, AlphaMissense 0.25, MetaLR 0.52, Uncertain significance, Renal cell carcinoma
- E28K (p.Glu28Lys), rs1562882876, ClinGen CA368968301, ClinVar RCV002232975, Ensembl rs1562882876, AlphaMissense 0.23, MetaLR 0.63, Uncertain significance, Renal cell carcinoma
- E28Q (p.Glu28Gln), rs1562882876, ClinGen CA368968302, cosmic curated COSV10462, ClinVar RCV003597130, AlphaMissense 0.23, MetaLR 0.63, Uncertain significance, Renal cell carcinoma
- E28V (p.Glu28Val), rs2116579734, ClinGen CA368968306, cosmic curated COSV59260, ClinVar RCV003597005, AlphaMissense 0.27, MetaLR 0.61, Uncertain significance, Renal cell carcinoma
- E28E (p.Glu28Glu), rs759602956, gnomAD 7-116699168-G-A, AlphaMissense 0.25, MetaLR 0.52
- A29E (p.Ala29Glu), ExAC rs775439897, TOPMed rs775439897, gnomAD rs775439897, Uncertain significance, not provided; Renal cell carcinoma
- A29G (p.Ala29Gly), rs775439897, ClinGen CA368968311, ClinVar RCV002373414, ExAC rs775439897, AlphaMissense 0.25, MetaLR 0.58, Uncertain significance, Hereditary cancer-predisposing syndrome
- A29P (p.Ala29Pro), rs765246117, ClinGen CA4447942, ClinVar RCV002042031, ClinVar RCV002449461, AlphaMissense 0.34, MetaLR 0.56, Uncertain significance, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- A29S (p.Ala29Ser), rs765246117, ClinGen CA368968310, ClinVar RCV001937382, ExAC rs765246117, REVEL 0.17, AlphaMissense 0.34, Uncertain significance, Renal cell carcinoma
- A29T (p.Ala29Thr), ExAC rs765246117, TOPMed rs765246117, gnomAD rs765246117, Uncertain significance, Renal cell carcinoma
- A29V (p.Ala29Val), rs775439897, ClinGen CA4447943, cosmic curated COSV59256, ClinVar RCV001018204, REVEL 0.23, AlphaMissense 0.25, Benign/Likely benign, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- L30P (p.Leu30Pro), rs1797069603, ClinGen CA368968316, ClinVar RCV003033973, ClinVar RCV005675093, REVEL 0.19, MetaLR 0.34, Uncertain significance, Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- L30Q (p.Leu30Gln), Ensembl rs1797069603, Uncertain significance, Hereditary cancer-predisposing syndrome
- L30V (p.Leu30Val), cosmic curated COSV10589, TOPMed rs1060504939, gnomAD rs1060504939, REVEL 0.09, MetaLR 0.23, Likely benign, Hereditary cancer-predisposing syndrome
- L30L (p.Leu30Leu), rs1060504939, gnomAD 7-116699172-C-T, CADD 7.97
- A31P (p.Ala31Pro), Ensembl rs2116579936
- A31S (p.Ala31Ser), Ensembl rs2116579936, Uncertain significance, Renal cell carcinoma
- A31T (p.Ala31Thr), Ensembl rs2116579936
- A31V (p.Ala31Val), rs2485505163, ClinGen CA368968323, ClinVar RCV002371532, ClinVar RCV003100139, Conflicting interpretations, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- A31E (p.Ala31Glu), gnomAD 7-116699176-C-A, REVEL 0.05, MetaLR 0.10
- A31A (p.Ala31Ala), rs763196530, gnomAD 7-116699177-A-T, CADD 5.26
- K32* (p.Lys32Ter), Ensembl rs2116579995
- K32E (p.Lys32Glu), Ensembl rs2116579995
- K32M (p.Lys32Met), Ensembl rs2116580016
- K32N (p.Lys32Asn), Ensembl rs2116580040, Likely benign
- S33A (p.Ser33Ala), Ensembl rs2116580068
- S33F (p.Ser33Phe), NCI-TCGA Cosmic COSV5926, cosmic curated COSV59263, Variant assessed as somatic; moderate impact.
- S33T (p.Ser33Thr), Ensembl rs2116580068
- S33Y (p.Ser33Tyr), rs2485505223, ClinGen CA368968335, ClinVar RCV002387448, Uncertain significance, Hereditary cancer-predisposing syndrome
- S33S (p.Ser33Ser), gnomAD 7-116699183-C-A, CADD 1.07
- E34* (p.Glu34Ter), ExAC rs764246939, TOPMed rs764246939, gnomAD rs764246939, Likely benign
- E34A (p.Glu34Ala), cosmic curated COSV10589
- E34D (p.Glu34Asp), rs1296330997, TOPMed rs1296330997, gnomAD rs1296330997, ClinGen CA368968343, REVEL 0.09, MetaLR 0.30, Uncertain significance, Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- E34G (p.Glu34Gly), Ensembl rs2116580168
- E34K (p.Glu34Lys), rs764246939, ClinGen CA4447945, cosmic curated COSV59259, ClinVar RCV001312212, REVEL 0.05, MetaLR 0.17, Conflicting interpretations, Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- E34Q (p.Glu34Gln), rs764246939, ClinGen CA368968338, ClinVar RCV001204887, ExAC rs764246939, REVEL 0.11, MetaLR 0.28, Conflicting interpretations, Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- E34V (p.Glu34Val), Ensembl rs2116580168
- E34E (p.Glu34Glu), rs1296330997, gnomAD 7-116699186-G-A, CADD 8.38
- M35I (p.Met35Ile), rs376244358, ClinGen CA368968350, ClinVar RCV001899325, ESP rs376244358, REVEL 0.12, MetaLR 0.31, Uncertain significance, Autosomal recessive nonsyndromic hearing loss 97; Hereditary cancer-predisposing
- M35K (p.Met35Lys), Ensembl rs1584875799, Uncertain significance
- M35L (p.Met35Leu), rs375353223, ClinGen CA160424, cosmic curated COSV10589, ClinVar RCV000121342, REVEL 0.05, MetaLR 0.25, Conflicting interpretations, Renal cell carcinoma; Hereditary cancer; Osteofibrous dysplasia
- M35R (p.Met35Arg), Ensembl rs1584875799, Uncertain significance
Public MET analysis runs
- MET analysis run — MET (6,533 variants) — completed 2026-08-10