MAP2K1 (Q02750) variants and mutations
MAP2K1 (also known as Q02750) is a human protein-coding gene encoding a dual specificity mitogen-activated protein kinase kinase 1 protein. It phosphorylates ERK1 and ERK2 downstream of RAF and thereby propagates RAS-MAPK growth and developmental signals. Activating somatic variants occur in several cancers, while germline activating variants can cause cardio-facio-cutaneous syndrome and related RASopathies. This analysis covers 1,428 MAP2K1 variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes cardiofaciocutaneous syndrome, cardiofaciocutaneous syndrome 3, and melanoma. Example MAP2K1 variants include P2L, P2R, and P2T.
Variant analysis overview
- Gene: MAP2K1
- Protein: Q02750
- UniProt accession: Q02750
- Organism: Homo sapiens
- Variants analyzed: 1428
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,259 unspecified-consequence records; 76 missense variants; 79 synonymous variants; 4 stop-gained variants; 6 frameshift variants; 2 splice-region variants; 2 substitution
- Prediction scores: 782 variants have prediction scores (55% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: cardiofaciocutaneous syndrome, cardiofaciocutaneous syndrome 3, melanoma, melorheostosis, cancer, Noonan syndrome, neoplasm, RASopathy, neurofibromatosis type 1, Noonan syndrome with multiple lentigines, metastatic melanoma, hypertrophic cardiomyopathy.
Protein structure and variant hotspots
- Protein features: 1 domains; 10 binding sites; 5 post-translational modification sites.
- Structural context: 1,047 variants have structural context.
- PTM context: 17 variants overlap post-translational modification sites.
- Experimental data: 131 protein positions have experimental scores. Source: Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequence), MAP2K1 dabrafenib and cetuximab HT-29 cells, Trametinib 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 MAP2K1 variants
Examples include P2L, P2R, P2T, P2S, P2H, P2P, K3R, K3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2L (p.Pro2Leu), Ensembl rs2140511591
- P2R (p.Pro2Arg), rs2140511591, ClinGen CA392931435, ClinVar RCV002796542, AlphaMissense 0.18, MetaLR 0.27, Uncertain significance, RASopathy
- P2T (p.Pro2Thr), gnomAD 15-66387351-C-A, REVEL 0.32, MetaLR 0.21
- P2S (p.Pro2Ser), gnomAD 15-66387351-C-T, REVEL 0.16, MetaLR 0.19
- P2H (p.Pro2His), gnomAD 15-66387352-C-A, REVEL 0.45, MetaLR 0.43
- P2P (p.Pro2Pro), rs377720622, gnomAD 15-66387353-C-G, CADD 14.80
- K3R (p.Lys3Arg), Ensembl rs2093343919, MetaLR 0.70, MetaSVM 0.39
- K3E (p.Lys3Glu), gnomAD 15-66387354-A-G, REVEL 0.45, MetaLR 0.72
- K3* (p.Lys3Ter), gnomAD 15-66387354-A-T, CADD 38.00
- K3M (p.Lys3Met), gnomAD 15-66387355-A-T, REVEL 0.64, MetaLR 0.77
- K3T (p.Lys3Thr), gnomAD 15-66387355-A-C, REVEL 0.43, MetaLR 0.52
- K3K (p.Lys3Lys), rs1208310528, gnomAD 15-66387356-G-A, CADD 13.50
- K4N (p.Lys4Asn), TOPMed rs1489477346, gnomAD rs1489477346, NCI-TCGA Cosmic COSV6107, REVEL 0.38, MetaLR 0.57, Likely benign
- K4R (p.Lys4Arg), rs761150136, ClinGen CA7623845, ClinVar RCV000587428, ClinVar RCV003539978, REVEL 0.37, MetaLR 0.44, Uncertain significance, RASopathy; not provided
- K4* (p.Lys4Ter), gnomAD 15-66387357-A-T, CADD 38.00
- K4E (p.Lys4Glu), gnomAD 15-66387357-A-G, REVEL 0.46, MetaLR 0.65
- K4K (p.Lys4Lys), rs1489477346, gnomAD 15-66387359-G-A, CADD 13.80
- K5N (p.Lys5Asn), rs2140511623, ClinGen CA392931481, ClinVar RCV004531552, REVEL 0.47, MetaLR 0.66, Uncertain significance, MAP2K1-related disorder
- K5R (p.Lys5Arg), Ensembl rs2093343943, MetaLR 0.66, MetaSVM 0.23
- K5E (p.Lys5Glu), gnomAD 15-66387360-A-G, REVEL 0.60, MetaLR 0.63
- K5Q (p.Lys5Gln), gnomAD 15-66387360-A-C, REVEL 0.53, MetaLR 0.66
- K5M (p.Lys5Met), gnomAD 15-66387361-A-T, REVEL 0.71, MetaLR 0.78
- K5K (p.Lys5Lys), rs2140511623, gnomAD 15-66387362-G-A, CADD 13.90
- P6S (p.Pro6Ser), Ensembl rs2140511627, REVEL 0.56, MetaLR 0.81
- P6L (p.Pro6Leu), gnomAD 15-66387364-C-T, REVEL 0.58, MetaLR 0.68
- P6Q (p.Pro6Gln), gnomAD 15-66387364-C-A, REVEL 0.54, MetaLR 0.82
- P6P (p.Pro6Pro), gnomAD 15-66387365-G-A, CADD 14.90
- T7M (p.Thr7Met), gnomAD rs2093343951, REVEL 0.35, MetaLR 0.76
- T7A (p.Thr7Ala), gnomAD 15-66387366-A-G, REVEL 0.40, MetaLR 0.80
- T7P (p.Thr7Pro), gnomAD 15-66387366-A-C, REVEL 0.47, MetaLR 0.78
- T7K (p.Thr7Lys), gnomAD 15-66387367-C-A, REVEL 0.44, MetaLR 0.77
- T7T (p.Thr7Thr), gnomAD 15-66387368-G-T, CADD 13.80
- P8T (p.Pro8Thr), gnomAD 15-66387369-C-A, REVEL 0.47, MetaLR 0.64
- P8S (p.Pro8Ser), gnomAD 15-66387369-C-T, REVEL 0.43, MetaLR 0.65
- P8H (p.Pro8His), gnomAD 15-66387370-C-A, REVEL 0.62, MetaLR 0.75
- P8L (p.Pro8Leu), gnomAD 15-66387370-C-T, REVEL 0.40, MetaLR 0.63
- P8P (p.Pro8Pro), rs1190011668, gnomAD 15-66387371-C-T, CADD 14.90
- I9S (p.Ile9Ser), gnomAD 15-66387367-CG-C, CADD 27.80
- I9V (p.Ile9Val), gnomAD 15-66387372-A-G, REVEL 0.34, MetaLR 0.61
- I9N (p.Ile9Asn), gnomAD 15-66387373-T-A, REVEL 0.57, MetaLR 0.66
- I9T (p.Ile9Thr), gnomAD 15-66387373-T-C, REVEL 0.52, MetaLR 0.58
- I9I (p.Ile9Ile), gnomAD 15-66387374-C-A, CADD 14.30
- I9M (p.Ile9Met), gnomAD 15-66387374-C-G, REVEL 0.38, MetaLR 0.59
- Q10H (p.Gln10His), Ensembl rs1595831212, REVEL 0.43, MetaLR 0.58
- Q10L (p.Gln10Leu), rs2093343985, ClinGen CA392931543, ClinVar RCV001194347, Ensembl rs2093343985, AlphaMissense 0.08, MetaLR 0.57, Uncertain significance, not specified
- Q10K (p.Gln10Lys), gnomAD 15-66387375-C-A, REVEL 0.34, MetaLR 0.51
- Q10* (p.Gln10Ter), gnomAD 15-66387375-C-T, CADD 38.00
- Q10R (p.Gln10Arg), gnomAD 15-66387376-A-G, REVEL 0.30, MetaLR 0.56
- Q10Q (p.Gln10Gln), gnomAD 15-66387377-G-A, CADD 13.30
- L11V (p.Leu11Val), rs2140511655, ClinGen CA392931552, ClinVar RCV003539580, Uncertain significance, RASopathy
- L11L (p.Leu11Leu), rs2140511655, gnomAD 15-66387378-C-T, CADD 13.50
- L11M (p.Leu11Met), gnomAD 15-66387378-C-A, REVEL 0.40, MetaLR 0.70
- L11Q (p.Leu11Gln), gnomAD 15-66387379-T-A, REVEL 0.54, MetaLR 0.75
- L11P (p.Leu11Pro), gnomAD 15-66387379-T-C, REVEL 0.41, MetaLR 0.64
- N12H (p.Asn12His), gnomAD rs1267190015, REVEL 0.45, MetaLR 0.68
- N12S (p.Asn12Ser), gnomAD 15-66387382-A-G, REVEL 0.33, MetaLR 0.57
- N12K (p.Asn12Lys), gnomAD 15-66387383-C-A, REVEL 0.30, MetaLR 0.52
- N12N (p.Asn12Asn), rs2140511663, gnomAD 15-66387383-C-T, CADD 13.20
- P13Q (p.Pro13Gln), Ensembl rs868181833, REVEL 0.55, MetaLR 0.83
- P13S (p.Pro13Ser), rs2545000729, ClinGen CA392931578, ClinVar RCV003154131, ClinVar RCV005100923, REVEL 0.50, MetaLR 0.81, Uncertain significance, not provided; RASopathy
- P13T (p.Pro13Thr), gnomAD 15-66387384-C-A, REVEL 0.56, MetaLR 0.85
- P13L (p.Pro13Leu), gnomAD 15-66387385-C-T, REVEL 0.61, MetaLR 0.86
- P13R (p.Pro13Arg), gnomAD 15-66387385-C-G, REVEL 0.70, MetaLR 0.90
- P13P (p.Pro13Pro), rs876657503, gnomAD 15-66387386-G-A, CADD 13.90
- A14P (p.Ala14Pro), Ensembl rs1595831221, REVEL 0.42, MetaLR 0.56
- A14T (p.Ala14Thr), Ensembl rs1595831221, REVEL 0.30, MetaLR 0.42
- A14V (p.Ala14Val), rs2093344028, ClinGen CA392931595, ClinVar RCV003654849, TOPMed rs2093344028, REVEL 0.26, MetaLR 0.55, Uncertain significance, RASopathy
- A14S (p.Ala14Ser), gnomAD 15-66387387-G-T, REVEL 0.34, MetaLR 0.47
- A14D (p.Ala14Asp), gnomAD 15-66387388-C-A, REVEL 0.32, MetaLR 0.61
- A14G (p.Ala14Gly), gnomAD 15-66387388-C-G, REVEL 0.28, MetaLR 0.55
- A14A (p.Ala14Ala), gnomAD 15-66387389-C-T, CADD 14.80
- P15A (p.Pro15Ala), rs916502006, ClinGen CA271646517, ClinVar RCV002333721, ClinVar RCV003539421, REVEL 0.34, MetaLR 0.55, Uncertain significance, RASopathy; Cardiovascular phenotype
- P15L (p.Pro15Leu), ExAC rs764535990, gnomAD rs764535990, REVEL 0.43, MetaLR 0.59
- P15R (p.Pro15Arg), ExAC rs764535990, gnomAD rs764535990, MetaLR 0.64, MetaSVM 0.31, Uncertain significance, Cardiofaciocutaneous syndrome 3; RASopathy
- P15S (p.Pro15Ser), rs916502006, ClinGen CA392931600, ClinVar RCV002026456, TOPMed rs916502006, REVEL 0.30, MetaLR 0.55, Uncertain significance, RASopathy
- P15T (p.Pro15Thr), gnomAD 15-66387390-C-A, REVEL 0.36, MetaLR 0.63
- P15H (p.Pro15His), gnomAD 15-66387391-C-A, REVEL 0.52, MetaLR 0.50
- P15P (p.Pro15Pro), rs1487811003, gnomAD 15-66387392-C-T, CADD 13.40
- D16E (p.Asp16Glu), rs1330053912, ClinGen CA392931620, ClinVar RCV001302125, ClinVar RCV005652598, REVEL 0.36, MetaLR 0.35, Uncertain significance, Cardiovascular phenotype
- D16H (p.Asp16His), Ensembl rs2140511706, REVEL 0.47, MetaLR 0.58
- D16N (p.Asp16Asn), Ensembl rs2140511706, REVEL 0.28, MetaLR 0.53
- D16V (p.Asp16Val), gnomAD rs1455356412, REVEL 0.44, MetaLR 0.55
- D16T (p.Asp16Thr), rs1566991692, gnomAD 15-66387387-GC-G, CADD 28.30
- D16Y (p.Asp16Tyr), gnomAD 15-66387393-G-T, REVEL 0.60, MetaLR 0.66
- D16G (p.Asp16Gly), gnomAD 15-66387394-A-G, REVEL 0.34, MetaLR 0.59
- D16D (p.Asp16Asp), rs1330053912, gnomAD 15-66387395-C-T, CADD 13.30
- G17D (p.Gly17Asp), Ensembl rs2140511724, REVEL 0.53, MetaLR 0.72
- G17R (p.Gly17Arg), gnomAD rs1157933155, REVEL 0.63, MetaLR 0.80
- G17S (p.Gly17Ser), gnomAD 15-66387396-G-A, REVEL 0.48, MetaLR 0.64
- G17C (p.Gly17Cys), gnomAD 15-66387396-G-T, REVEL 0.55, MetaLR 0.65
- G17A (p.Gly17Ala), gnomAD 15-66387397-G-C, REVEL 0.38, MetaLR 0.60
- G17V (p.Gly17Val), gnomAD 15-66387397-G-T, REVEL 0.67, MetaLR 0.74
- G17G (p.Gly17Gly), gnomAD 15-66387398-C-T, CADD 15.10
- S18C (p.Ser18Cys), rs1349988835, ClinGen CA392931644, ClinVar RCV000995375, TOPMed rs1349988835, AlphaMissense 0.08, MetaLR 0.79, Uncertain significance, not provided
- S18F (p.Ser18Phe), TOPMed rs1349988835, gnomAD rs1349988835, REVEL 0.55, AlphaMissense 0.08, Uncertain significance, RASopathy
- S18P (p.Ser18Pro), gnomAD 15-66387399-T-C, REVEL 0.57, MetaLR 0.68
- S18Y (p.Ser18Tyr), gnomAD 15-66387400-C-A, REVEL 0.50, MetaLR 0.79
- S18S (p.Ser18Ser), rs2140511731, gnomAD 15-66387401-T-C, CADD 8.72
- A19G (p.Ala19Gly), rs727504413, ClinGen CA181038, ClinVar RCV000154603, ClinVar RCV000819149, REVEL 0.29, MetaLR 0.61, Uncertain significance, Melorheostosis; Cardiofaciocutaneous syndrome 3; not specified
- A19V (p.Ala19Val), ExAC rs727504413, TOPMed rs727504413, gnomAD rs727504413, REVEL 0.36, MetaLR 0.65, Uncertain significance
- A19S (p.Ala19Ser), gnomAD 15-66387402-G-T, REVEL 0.37, MetaLR 0.45
- A19P (p.Ala19Pro), gnomAD 15-66387402-G-C, REVEL 0.48, MetaLR 0.56
- A19T (p.Ala19Thr), gnomAD 15-66387402-G-A, REVEL 0.35, MetaLR 0.47
- A19E (p.Ala19Glu), gnomAD 15-66387403-C-A, REVEL 0.47, MetaLR 0.60
- A19A (p.Ala19Ala), gnomAD 15-66387404-A-C, CADD 14.80
- V20I (p.Val20Ile), gnomAD 15-66387405-G-A, REVEL 0.30, MetaLR 0.51
- V20A (p.Val20Ala), gnomAD 15-66387406-T-C, REVEL 0.45, MetaLR 0.58
- V20V (p.Val20Val), gnomAD 15-66387407-T-A, CADD 12.30
- N21T (p.Asn21Thr), NCI-TCGA Cosmic COSV1044, MetaLR 0.53, MetaSVM -0.27, Variant assessed as somatic; moderate impact.
- N21D (p.Asn21Asp), gnomAD 15-66387408-A-G, REVEL 0.41, MetaLR 0.55
- N21S (p.Asn21Ser), gnomAD 15-66387409-A-G, REVEL 0.38, MetaLR 0.55
- N21K (p.Asn21Lys), gnomAD 15-66387410-C-G, REVEL 0.39, MetaLR 0.52
- N21N (p.Asn21Asn), rs567535653, gnomAD 15-66387410-C-T, CADD 13.70
- G22E (p.Gly22Glu), NCI-TCGA Cosmic COSV6107, REVEL 0.49, MetaLR 0.51, Uncertain significance, not provided
- G22W (p.Gly22Trp), TOPMed rs994693514, REVEL 0.76, MetaLR 0.74
- G22R (p.Gly22Arg), gnomAD 15-66387411-G-A, REVEL 0.50, MetaLR 0.58
- G22V (p.Gly22Val), gnomAD 15-66387412-G-T, REVEL 0.48, MetaLR 0.63
- G22G (p.Gly22Gly), gnomAD 15-66387413-G-T, CADD 15.20
- T23A (p.Thr23Ala), gnomAD 15-66387414-A-G, REVEL 0.35, MetaLR 0.55
- T23S (p.Thr23Ser), gnomAD 15-66387414-A-T, REVEL 0.34, MetaLR 0.57
- T23N (p.Thr23Asn), gnomAD 15-66387415-C-A, REVEL 0.35, MetaLR 0.58
- T23T (p.Thr23Thr), rs140749690, gnomAD 15-66387416-C-T, CADD 13.80
- S24G (p.Ser24Gly), rs2093344167, ClinGen CA392931714, ClinVar RCV001238194, Ensembl rs2093344167, REVEL 0.34, MetaLR 0.49, Uncertain significance, RASopathy
- S24N (p.Ser24Asn), TOPMed rs1290055913, gnomAD rs1290055913, REVEL 0.24, MetaLR 0.58, Uncertain significance
- S24T (p.Ser24Thr), rs1290055913, ClinGen CA392931719, ClinVar RCV001059941, ClinVar RCV005005019, REVEL 0.28, MetaLR 0.53, Uncertain significance, Melorheostosis; Cardiofaciocutaneous syndrome 3; RASopathy
- S24I (p.Ser24Ile), gnomAD 15-66387418-G-T, REVEL 0.34, MetaLR 0.49
- S24R (p.Ser24Arg), gnomAD 15-66387419-C-A, REVEL 0.41, MetaLR 0.60
- S24S (p.Ser24Ser), gnomAD 15-66387419-C-T, CADD 15.00
- S25F (p.Ser25Phe), 1000Genomes rs553162958, ExAC rs553162958, gnomAD rs553162958, REVEL 0.49, MetaLR 0.55
- S25L (p.Ser25Leu), gnomAD 15-66387420-TC-T, CADD 31.00
- S25Y (p.Ser25Tyr), gnomAD 15-66387421-C-A, REVEL 0.49, MetaLR 0.65
- S25S (p.Ser25Ser), gnomAD 15-66387422-T-C, CADD 15.40
- A26E (p.Ala26Glu), gnomAD rs1290811972, REVEL 0.57, MetaLR 0.56, Uncertain significance
- A26T (p.Ala26Thr), rs1228037386, ClinGen CA392931731, ClinVar RCV001759248, TOPMed rs1228037386, REVEL 0.40, MetaLR 0.51, Uncertain significance, not provided
- A26V (p.Ala26Val), rs1290811972, ClinGen CA392931740, ClinVar RCV003115366, gnomAD rs1290811972, REVEL 0.47, MetaLR 0.58, Uncertain significance, RASopathy
- A26G (p.Ala26Gly), gnomAD 15-66387422-TGC-T, CADD 32.00
- A26S (p.Ala26Ser), gnomAD 15-66387423-G-T, REVEL 0.40, MetaLR 0.49
- A26A (p.Ala26Ala), gnomAD 15-66387425-G-T, CADD 16.60
- E27D (p.Glu27Asp), Ensembl rs2140578322, Uncertain significance
- E27V (p.Glu27Val), TOPMed rs2093344208, gnomAD rs2093344208, REVEL 0.67, MetaLR 0.78
- E27R (p.Glu27Arg), gnomAD 15-66387424-CG-C, CADD 24.80
- E27* (p.Glu27Ter), gnomAD 15-66387426-G-T, CADD 41.00
- E27G (p.Glu27Gly), rs1429008529, gnomAD 15-66401940-C-CT, CADD 14.40
- E27E (p.Glu27Glu), gnomAD 15-66401945-G-A, CADD 18.50
- T28A (p.Thr28Ala), Ensembl rs2140578329
- T28I (p.Thr28Ile), Ensembl rs2140578335
- T28N (p.Thr28Asn), Ensembl rs2140578335, REVEL 0.47, MetaLR 0.61, Uncertain significance, RASopathy
- T28S (p.Thr28Ser), Ensembl rs2140578335, MetaLR 0.57, MetaSVM -0.00
- N29I (p.Asn29Ile), TOPMed rs1277076291, gnomAD rs1277076291, Uncertain significance
- N29K (p.Asn29Lys), ExAC rs755038798, gnomAD rs755038798, Likely benign
- N29S (p.Asn29Ser), rs1277076291, ClinGen CA392928883, ClinVar RCV002909028, TOPMed rs1277076291, REVEL 0.32, MetaLR 0.52, Uncertain significance, RASopathy
- N29Y (p.Asn29Tyr), Ensembl rs2140578359, MetaLR 0.66, MetaSVM 0.23
- N29N (p.Asn29Asn), rs755038798, gnomAD 15-66435033-C-T, CADD 8.38
- L30F (p.Leu30Phe), Ensembl rs2140578383
- L30M (p.Leu30Met), Ensembl rs2140578376, MetaLR 0.81, MetaSVM 0.60
- L30L (p.Leu30Leu), rs2140578383, gnomAD 15-66435036-G-A, CADD 9.87
- E31* (p.Glu31Ter), Ensembl rs2140578397
- E31D (p.Glu31Asp), Ensembl rs2093484017
- E31G (p.Glu31Gly), Ensembl rs2140578404
- E31K (p.Glu31Lys), Ensembl rs2140578397
- E31Q (p.Glu31Gln), Ensembl rs2140578397
- E31V (p.Glu31Val), NCI-TCGA TCGA novel, Ensembl rs2140578404, MetaLR 0.79, MetaSVM 0.57, Variant assessed as somatic; moderate impact.
- A32D (p.Ala32Asp), TOPMed rs1203670813, gnomAD rs1203670813, Uncertain significance
- A32G (p.Ala32Gly), TOPMed rs1203670813, gnomAD rs1203670813, Uncertain significance
- A32P (p.Ala32Pro), Ensembl rs2140578420
- A32S (p.Ala32Ser), Ensembl rs2140578420
- A32T (p.Ala32Thr), Ensembl rs2140578420, MetaLR 0.72, MetaSVM 0.27
- A32V (p.Ala32Val), rs1203670813, ClinGen CA392928922, ClinVar RCV002374353, ClinVar RCV003738232, REVEL 0.45, MetaLR 0.59, Uncertain significance, Cardiovascular phenotype; not provided; RASopathy
- A32A (p.Ala32Ala), rs781144142, gnomAD 15-66435042-C-T, CADD 11.20
- L33F (p.Leu33Phe), Ensembl rs2140578458, Likely benign
- L33M (p.Leu33Met), Ensembl rs2140578448, MetaLR 0.83, MetaSVM 0.69
- L33S (p.Leu33Ser), TOPMed rs1398951177, gnomAD rs1398951177, REVEL 0.86, MetaLR 0.87
- Q34* (p.Gln34Ter), Ensembl rs2140578466, CADD 39.00
- Q34E (p.Gln34Glu), Ensembl rs2140578466
- Q34H (p.Gln34His), Ensembl rs2140578481
- Q34L (p.Gln34Leu), Ensembl rs2140578473
- Q34P (p.Gln34Pro), Ensembl rs2140578473
- Q34R (p.Gln34Arg), Ensembl rs2140578473, MetaLR 0.77, MetaSVM 0.48
- K35* (p.Lys35Ter), Ensembl rs2140578489
- K35N (p.Lys35Asn), Ensembl rs2140578495, MetaLR 0.83, MetaSVM 0.61
Public MAP2K1 analysis runs
- MAP2K1 analysis run — MAP2K1 (1,428 variants) — completed 2026-08-18