BRAF (P15056) variants and mutations
BRAF (also known as P15056) is a human protein-coding gene encoding a serine/threonine-protein kinase B-raf protein. It relays activated RAS signals through MEK and ERK to control proliferation, differentiation, and survival. Activating variants, especially V600E, drive melanoma and several other cancers and create sensitivity to pathway-directed therapies. This analysis covers 1,977 BRAF variants and mutations. Of these, 32% have computational variant effect predictions. Disease context includes cardiofaciocutaneous syndrome, Noonan syndrome, and melanoma. Example BRAF variants include A2E, A3T, and G6C.
Variant analysis overview
- Gene: BRAF
- Protein: P15056
- UniProt accession: P15056
- Organism: Homo sapiens
- Variants analyzed: 1977
- Variant scope: all variants
- Completed: 2026-08-09
Variant and mutation evidence
- Variant composition: 1,936 unspecified-consequence records; 1 stop retained variant; 25 missense variants; 1 in-frame deletions; 2 stop lost; 8 synonymous variants; 2 frameshift variants; 1 splice-region variants
- Prediction scores: 627 variants have prediction scores (32% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: cardiofaciocutaneous syndrome, Noonan syndrome, melanoma, cardiofaciocutaneous syndrome 1, Noonan syndrome 7, LEOPARD syndrome 3, Noonan syndrome with multiple lentigines, colorectal cancer, cancer, lung cancer, non-small cell lung carcinoma, lung adenocarcinoma.
Protein structure and variant hotspots
- Protein features: 2 domains; 10 binding sites; 14 post-translational modification sites.
- Structural context: 1,053 variants have structural context.
- PTM context: 41 variants overlap post-translational modification sites.
- Experimental data: 76 protein positions have experimental scores. Source: binding assays.
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 BRAF variants
Examples include A2E, A3T, G6C, G6D, G7C, G7D, G7S, G8C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2E (p.Ala2Glu), gnomAD rs1471655119, MetaLR 0.14, MetaSVM -0.88
- A3T (p.Ala3Thr), gnomAD rs1248316144, MetaLR 0.20, MetaSVM -0.85
- G6C (p.Gly6Cys), TOPMed rs1209990009, gnomAD rs1209990009, MetaLR 0.15, MetaSVM -0.97
- G6D (p.Gly6Asp), 1000Genomes rs2129153461, MetaLR 0.18, MetaSVM -0.96
- G7C (p.Gly7Cys), gnomAD rs1818685692, MetaLR 0.17, MetaSVM -0.82
- G7D (p.Gly7Asp), rs2536968672, ClinGen CA369590258, ClinVar RCV002281790, Uncertain significance, not specified
- G7S (p.Gly7Ser), gnomAD rs1818685692, MetaLR 0.21, MetaSVM -0.86, Uncertain significance, RASopathy
- G8C (p.Gly8Cys), rs1205861530, ClinGen CA369590253, cosmic curated COSV56221, ClinVar RCV003842171, MetaLR 0.20, MetaSVM -0.89, Uncertain significance, Melanoma, cutaneous malignant, susceptibility to, 1; Noonan syndrome 7; LEOPARD
- G8V (p.Gly8Val), cosmic curated COSV56106, ExAC rs774925605, gnomAD rs774925605, MetaLR 0.20, MetaSVM -0.86
- G9A (p.Gly9Ala), rs1211436028, ClinGen CA369590247, ClinVar RCV001958359, ClinVar RCV002425313, MetaLR 0.16, MetaSVM -0.90, Uncertain significance, Melanoma, cutaneous malignant, susceptibility to, 1; Cardiofaciocutaneous syndro
- G10S (p.Gly10Ser), rs1356557681, ClinGen CA369590242, ClinVar RCV001202388, ClinVar RCV004033534, MetaLR 0.30, MetaSVM -0.76, Uncertain significance, Cardiovascular phenotype; RASopathy
- G11A (p.Gly11Ala), rs1818679372, ClinGen CA369590234, ClinVar RCV003655626, Ensembl rs1818679372, MetaLR 0.16, MetaSVM -0.99, Uncertain significance, RASopathy
- G11S (p.Gly11Ser), cosmic curated COSV56439, gnomAD rs1225976306, MetaLR 0.14, MetaSVM -1.00
- A12V (p.Ala12Val), rs1818678707, ClinGen CA369590229, ClinVar RCV001887434, gnomAD rs1818678707, MetaLR 0.23, MetaSVM -0.82, Uncertain significance, RASopathy
- E13D (p.Glu13Asp), rs868441785, ClinGen CA168218650, ClinVar RCV000692616, ClinVar RCV001174649, MetaLR 0.17, MetaSVM -0.89, Uncertain significance, RASopathy; Cardiofaciocutaneous syndrome 1; not specified
- E13G (p.Glu13Gly), cosmic curated COSV10942, Ensembl rs2129153403, MetaLR 0.22, MetaSVM -0.77
- E13K (p.Glu13Lys), rs1563042573, ClinGen CA369590226, ClinVar RCV000680639, Ensembl rs1563042573, MetaLR 0.20, MetaSVM -0.89, Uncertain significance, not provided
- E13V (p.Glu13Val), Ensembl rs2129153403, MetaLR 0.19, MetaSVM -0.90
- P14L (p.Pro14Leu), rs397507455, ClinGen CA369590216, ClinVar RCV001318070, ClinVar RCV005432668, MetaLR 0.16, MetaSVM -0.92, Uncertain significance, RASopathy; not specified
- P14R (p.Pro14Arg), rs397507455, ClinGen CA281924, ClinVar RCV000033266, ClinVar RCV000654946, MetaLR 0.16, MetaSVM -0.98, Uncertain significance, not provided; RASopathy
- Q16E (p.Gln16Glu), TOPMed rs1333413472, gnomAD rs1333413472, MetaLR 0.21, MetaSVM -0.95, Uncertain significance, RASopathy
- Q16H (p.Gln16His), rs1563042542, ClinGen CA369590202, ClinVar RCV000681056, Ensembl rs1563042542, AlphaMissense 0.16, MetaLR 0.17, Uncertain significance, not provided
- Q16P (p.Gln16Pro), Ensembl rs2129153376
- A17P (p.Ala17Pro), rs1818675668, ClinGen CA369590199, ClinVar RCV001233201, Ensembl rs1818675668, MetaLR 0.17, MetaSVM -0.98, Uncertain significance, RASopathy
- L18M (p.Leu18Met), TOPMed rs1222192591, gnomAD rs1222192591, MetaLR 0.24, MetaSVM -0.73, Likely benign
- L18V (p.Leu18Val), rs1222192591, ClinGen CA369590193, ClinVar RCV001768412, ClinVar RCV001868748, MetaLR 0.23, MetaSVM -0.83, Conflicting interpretations, not specified; not provided; RASopathy
- F19L (p.Phe19Leu), rs745476335, ClinGen CA4517047, ClinVar RCV002944118, ExAC rs745476335, MetaLR 0.16, MetaSVM -0.91, Uncertain significance, RASopathy
- N20D (p.Asn20Asp), rs1321934224, ClinGen CA369590181, ClinVar RCV001338045, ClinVar RCV003169586, MetaLR 0.20, MetaSVM -0.88, Uncertain significance, Cardiovascular phenotype; RASopathy
- N20S (p.Asn20Ser), 1000Genomes rs781085650, ExAC rs781085650, gnomAD rs781085650, MetaLR 0.21, MetaSVM -0.91
- N20T (p.Asn20Thr), rs781085650, ClinGen CA369590179, ClinVar RCV003278239, MetaLR 0.21, MetaSVM -0.91, Uncertain significance, Cardiovascular phenotype
- G21R (p.Gly21Arg), rs587778113, ClinGen CA157468, ClinVar RCV000120255, TOPMed rs587778113, MetaLR 0.44, MetaSVM -0.44, Uncertain significance, not provided; RASopathy
- D22E (p.Asp22Glu), rs543953468, 1000Genomes rs543953468, ClinGen CA369590165, ClinVar RCV002292229, MetaLR 0.24, MetaSVM -0.79, Uncertain significance, Noonan syndrome 7
- D22N (p.Asp22Asn), rs397507456, ClinGen CA135131, cosmic curated COSV99071, ClinVar RCV000037950, AlphaMissense 0.50, MetaLR 0.31, Benign, RASopathy
- D22V (p.Asp22Val), rs1414371670, ClinGen CA369590166, ClinVar RCV001924723, ClinVar RCV004779170, MetaLR 0.37, MetaSVM -0.57, Uncertain significance, not provided; RASopathy
- D22Y (p.Asp22Tyr), rs397507456, ClinGen CA369590169, ClinVar RCV002364137, AlphaMissense 0.50, MetaLR 0.31, Uncertain significance, Cardiovascular phenotype
- M23I (p.Met23Ile), rs1064796897, ClinGen CA16618360, ClinVar RCV000480411, Ensembl rs1064796897, AlphaMissense 0.29, MetaLR 0.22, Uncertain significance, not provided
- M23K (p.Met23Lys), rs746778122, ClinGen CA4517045, ClinVar RCV000702844, ClinVar RCV000779849, MetaLR 0.23, MetaSVM -0.80, Benign/Likely benign, not specified; RASopathy
- M23L (p.Met23Leu), TOPMed rs1818671266, MetaLR 0.20, MetaSVM -0.91, Uncertain significance
- M23R (p.Met23Arg), rs746778122, ClinGen CA369590160, ClinVar RCV002756878, MetaLR 0.23, MetaSVM -0.80, Uncertain significance, RASopathy
- M23V (p.Met23Val), rs1818671266, ClinGen CA369590163, ClinVar RCV001196110, ClinVar RCV002560215, MetaLR 0.22, MetaSVM -0.90, Uncertain significance, Cardiofaciocutaneous syndrome 1; RASopathy
- E24A (p.Glu24Ala), rs1586674580, ClinGen CA369590155, ClinVar RCV003069245, Ensembl rs1586674580, MetaLR 0.24, MetaSVM -0.82, Uncertain significance, RASopathy
- E24D (p.Glu24Asp), rs587778114, ClinGen CA157471, ClinVar RCV000120256, ClinVar RCV000680282, MetaLR 0.17, MetaSVM -0.97, Conflicting interpretations, Cardiovascular phenotype; not provided; RASopathy
- E24G (p.Glu24Gly), Ensembl rs1586674580, MetaLR 0.24, MetaSVM -0.80, Uncertain significance
- E24K (p.Glu24Lys), rs730880416, ClinGen CA295916, ClinVar RCV000157826, Ensembl rs730880416, AlphaMissense 0.61, MetaLR 0.19, Uncertain significance, not provided
- P25L (p.Pro25Leu), rs2536967702, ClinGen CA369590148, ClinVar RCV003481867, MetaLR 0.21, MetaSVM -0.86, Uncertain significance, not provided
- P25S (p.Pro25Ser), rs730880412, ClinGen CA295900, ClinVar RCV004700490, ClinVar RCV006461666, MetaLR 0.19, MetaSVM -0.95, Uncertain significance, not provided; RASopathy
- P25T (p.Pro25Thr), rs730880412, ClinGen CA295919, ClinVar RCV000157827, TOPMed rs730880412, MetaLR 0.20, MetaSVM -0.91, Uncertain significance, not provided
- E26A (p.Glu26Ala), cosmic curated COSV99950, Ensembl rs2129153299
- E26D (p.Glu26Asp), rs371877084, ClinGen CA135143, cosmic curated COSV56062, ClinVar RCV000033269, MetaLR 0.10, MetaSVM -0.88, Benign/Likely benign, Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; not provi
- E26G (p.Glu26Gly), Ensembl rs2129153299
- E26K (p.Glu26Lys), rs397507457, ClinGen CA281927, cosmic curated COSV10460, ClinVar RCV000033268, AlphaMissense 0.20, MetaLR 0.19, Conflicting interpretations, Cardiovascular phenotype; not specified; RASopathy
- E26Q (p.Glu26Gln), Ensembl rs397507457, AlphaMissense 0.20, MetaLR 0.19, Likely benign
- A27G (p.Ala27Gly), rs1206505128, ClinGen CA369590137, ClinVar RCV002419475, ClinVar RCV003539434, MetaLR 0.25, MetaSVM -0.71, Uncertain significance, Cardiovascular phenotype; RASopathy
- A27T (p.Ala27Thr), rs1247014863, ClinGen CA369590141, cosmic curated COSV56150, ClinVar RCV001919688, MetaLR 0.26, MetaSVM -0.71, Uncertain significance, not specified; RASopathy
- A27V (p.Ala27Val), rs1206505128, ClinGen CA369590136, ClinVar RCV001948062, TOPMed rs1206505128, MetaLR 0.27, MetaSVM -0.67, Uncertain significance, RASopathy
- G28A (p.Gly28Ala), Ensembl rs2129153281, MetaLR 0.20, MetaSVM -0.88
- G28C (p.Gly28Cys), rs1437317949, ClinGen CA369590135, ClinVar RCV002015356, gnomAD rs1437317949, AlphaMissense 0.10, MetaLR 0.18, Uncertain significance, RASopathy
- G28S (p.Gly28Ser), rs1437317949, ClinGen CA369590133, ClinVar RCV002223088, gnomAD rs1437317949, AlphaMissense 0.10, MetaLR 0.18, Uncertain significance, not specified
- A29P (p.Ala29Pro), Ensembl rs2129153274, MetaLR 0.30, MetaSVM -0.60
- G30A (p.Gly30Ala), rs1273585752, ClinGen CA369590119, ClinVar RCV003540071, 1000Genomes rs1273585752, MetaLR 0.13, MetaSVM -0.93, Uncertain significance, RASopathy
- G30C (p.Gly30Cys), rs2129153267, ClinGen CA369590121, ClinVar RCV003655995, AlphaMissense 0.39, MetaLR 0.17, Uncertain significance, RASopathy
- G30D (p.Gly30Asp), rs1273585752, ClinGen CA369590118, NCI-TCGA Cosmic COSV5633, cosmic curated COSV56332, MetaLR 0.14, MetaSVM -0.92, Uncertain significance, Cardiofaciocutaneous syndrome 1; RASopathy
- G30R (p.Gly30Arg), Ensembl rs2129153267
- G30S (p.Gly30Ser), rs2129153267, ClinGen CA369590123, ClinVar RCV003877622, AlphaMissense 0.39, MetaLR 0.17, Uncertain significance, RASopathy
- A31G (p.Ala31Gly), rs397516906, ClinGen CA135146, ClinVar RCV000037963, ClinVar RCV000521017, MetaLR 0.16, MetaSVM -0.99, Likely benign, RASopathy
- A31P (p.Ala31Pro), Ensembl rs2129153255, MetaLR 0.18, MetaSVM -0.93, Uncertain significance
- A31T (p.Ala31Thr), rs2129153255, ClinGen CA369590117, cosmic curated COSV56215, ClinVar RCV002450056, MetaLR 0.18, MetaSVM -0.97, Uncertain significance, Cardiovascular phenotype
- A31V (p.Ala31Val), rs397516906, ClinGen CA168218528, ClinVar RCV001877927, TOPMed rs397516906, MetaLR 0.17, MetaSVM -0.94, Uncertain significance, RASopathy
- G32D (p.Gly32Asp), Ensembl rs730880417, MetaLR 0.16, MetaSVM -0.99
- G32R (p.Gly32Arg), rs1325363555, ClinGen CA369590112, ClinVar RCV002252517, TOPMed rs1325363555, MetaLR 0.17, MetaSVM -0.95, Uncertain significance, See cases
- G32S (p.Gly32Ser), rs1325363555, ClinGen CA369590113, ClinVar RCV003654575, ClinVar RCV005522886, MetaLR 0.13, MetaSVM -1.03, Uncertain significance, RASopathy; Cardiovascular phenotype
- A33P (p.Ala33Pro), rs1458837905, ClinGen CA369590107, ClinVar RCV003654629, TOPMed rs1458837905, MetaLR 0.14, MetaSVM -1.01, Uncertain significance, RASopathy
- A33T (p.Ala33Thr), cosmic curated COSV56189, TOPMed rs1458837905, gnomAD rs1458837905, MetaLR 0.14, MetaSVM -1.02, Uncertain significance
- A33V (p.Ala33Val), rs2129153230, ClinGen CA369590103, ClinVar RCV001813636, ClinVar RCV003426201, MetaLR 0.15, MetaSVM -1.00, Uncertain significance, Noonan syndrome and Noonan-related syndrome; not provided
- A34S (p.Ala34Ser), Ensembl rs2129153220, MetaLR 0.13, MetaSVM -0.97
- A34T (p.Ala34Thr), Ensembl rs2129153220, MetaLR 0.14, MetaSVM -0.95
- A34P (p.Ala34Pro), Ensembl rs2129153220
- A34V (p.Ala34Val), rs1424449802, ClinGen CA369590099, ClinVar RCV000824931, TOPMed rs1424449802, MetaLR 0.16, MetaSVM -0.74, Likely benign, Noonan syndrome
- A35D (p.Ala35Asp), rs1818660008, ClinGen CA369590093, ClinVar RCV003654494, Ensembl rs1818660008, MetaLR 0.14, MetaSVM -0.87, Uncertain significance, RASopathy
- A35G (p.Ala35Gly), Ensembl rs1818660008, Uncertain significance
- A35T (p.Ala35Thr), rs1818660367, ClinGen CA369590096, ClinVar RCV002026344, Ensembl rs1818660367, MetaLR 0.13, MetaSVM -0.99, Uncertain significance, RASopathy
- S36A (p.Ser36Ala), rs2129153192, ClinGen CA369590088, ClinVar RCV002413258, AlphaMissense 0.09, MetaLR 0.19, Uncertain significance, Cardiovascular phenotype
- S36C (p.Ser36Cys), TOPMed rs886041827, gnomAD rs886041827, MetaLR 0.17, MetaSVM -0.79, Uncertain significance, not provided
- S36F (p.Ser36Phe), rs886041827, ClinGen CA10603031, cosmic curated COSV10730, ClinVar RCV000350213, MetaLR 0.18, MetaSVM -0.75, Uncertain significance, not provided; RASopathy
- S36P (p.Ser36Pro), Ensembl rs2129153192
- S37L (p.Ser37Leu), gnomAD rs1390903353, MetaLR 0.16, MetaSVM -0.85, Uncertain significance, not provided
- A38P (p.Ala38Pro), rs1011563467, ClinGen CA168218467, ClinVar RCV001352546, ClinVar RCV002322307, MetaLR 0.17, MetaSVM -0.76, Uncertain significance, not provided; Noonan syndrome 1; Melanoma, cutaneous malignant, susceptibility t
- A38S (p.Ala38Ser), rs1011563467, ClinGen CA369590080, ClinVar RCV003318973, MetaLR 0.16, MetaSVM -0.95, Uncertain significance, not provided
- A38V (p.Ala38Val), rs886042293, ClinGen CA10604049, ClinVar RCV000339054, ClinVar RCV001855096, MetaLR 0.16, MetaSVM -0.84, Uncertain significance, not provided; Melanoma, cutaneous malignant, susceptibility to, 1; Cardiofaciocu
- A39V (p.Ala39Val), Ensembl rs2129153171, MetaLR 0.17, MetaSVM -0.87, Uncertain significance, RASopathy; not provided
- D40A (p.Asp40Ala), rs1818656083, ClinGen CA369590067, ClinVar RCV004226102, Ensembl rs1818656083, MetaLR 0.23, MetaSVM -0.79, Uncertain significance, Cardiovascular phenotype
- D40G (p.Asp40Gly), Ensembl rs1818656083, Uncertain significance
- D40N (p.Asp40Asn), Ensembl rs1161707003
- D40V (p.Asp40Val), Ensembl rs1818656083, Uncertain significance
- P41L (p.Pro41Leu), gnomAD rs1186254108, MetaLR 0.25, MetaSVM -0.73, Uncertain significance, RASopathy
- P41S (p.Pro41Ser), rs1389368234, ClinGen CA369590062, ClinVar RCV003230999, ClinVar RCV006561267, MetaLR 0.20, MetaSVM -0.79, Uncertain significance, not specified; RASopathy
- P41T (p.Pro41Thr), TOPMed rs1389368234, gnomAD rs1389368234, MetaLR 0.23, MetaSVM -0.78, Uncertain significance
- A42S (p.Ala42Ser), rs2129153151, ClinGen CA369590054, ClinVar RCV002018978, ClinVar RCV002492210, MetaLR 0.18, MetaSVM -0.98, Uncertain significance, Noonan syndrome 7; Colorectal cancer; Melanoma, cutaneous malignant, susceptibil
- A42V (p.Ala42Val), rs2129153147, ClinGen CA369590052, ClinVar RCV003540120, Ensembl rs2129153147, MetaLR 0.20, MetaSVM -0.79, Uncertain significance, RASopathy
- I43N (p.Ile43Asn), Ensembl rs2129153143, MetaLR 0.25, MetaSVM -0.62
- P44A (p.Pro44Ala), TOPMed rs1279627804, gnomAD rs1279627804, Uncertain significance
- P44L (p.Pro44Leu), rs794726917, ClinGen CA238790, ClinVar RCV000173337, Ensembl rs794726917, MetaLR 0.18, MetaSVM -0.81, Uncertain significance, not provided
- P44T (p.Pro44Thr), rs1279627804, ClinGen CA369590043, ClinVar RCV003278237, TOPMed rs1279627804, MetaLR 0.21, MetaSVM -0.82, Uncertain significance, Cardiovascular phenotype
- E45K (p.Glu45Lys), cosmic curated COSV56146, Ensembl rs2129153125, MetaLR 0.31, MetaSVM -0.49
- Q52* (p.Gln52Ter), Ensembl rs2129073771
- M53I (p.Met53Ile), rs2129073763, ClinGen CA369588024, ClinVar RCV001776429, ClinVar RCV003120685, AlphaMissense 1.00, MetaLR 0.22, Uncertain significance, not provided; not specified
- M53V (p.Met53Val), rs2536570234, ClinGen CA369588036, ClinVar RCV003540052, Uncertain significance, RASopathy
- I54V (p.Ile54Val), rs2536570209, ClinGen CA369588018, ClinVar RCV002471358, Uncertain significance, Cardiofaciocutaneous syndrome 1
- K55T (p.Lys55Thr), Ensembl rs1809010369, MetaLR 0.25, MetaSVM -0.55
- T57I (p.Thr57Ile), cosmic curated COSV56172, Ensembl rs1809008936, MetaLR 0.39, MetaSVM -0.14, Uncertain significance, RASopathy
- T57S (p.Thr57Ser), gnomAD rs1354935301, MetaLR 0.40, MetaSVM -0.35
- E59A (p.Glu59Ala), TOPMed rs1809007829, gnomAD rs1809007829, MetaLR 0.26, MetaSVM -0.67
- E59K (p.Glu59Lys), ESP rs371504803, ExAC rs371504803, gnomAD rs371504803, Uncertain significance, Neoplasm
- H60Y (p.His60Tyr), Ensembl rs1809007456
- I61V (p.Ile61Val), rs1265063696, ClinGen CA369587919, ClinVar RCV001035100, TOPMed rs1265063696, MetaLR 0.36, MetaSVM -0.43, Uncertain significance, RASopathy
- A63T (p.Ala63Thr), rs2536569980, ClinGen CA369587891, ClinVar RCV003654460, Uncertain significance, RASopathy
- G69A (p.Gly69Ala), rs1554412417, ClinGen CA369587798, ClinVar RCV000587988, ClinVar RCV001860135, MetaLR 0.16, MetaSVM -0.75, Uncertain significance, not provided; Colorectal cancer; Cardiofaciocutaneous syndrome 1
- G69S (p.Gly69Ser), rs757446039, ClinGen CA4517022, cosmic curated COSV56335, ClinVar RCV003655648, MetaLR 0.39, MetaSVM -0.33, Uncertain significance, RASopathy; Diffuse midline glioma, H3 K27-altered
- G70E (p.Gly70Glu), Ensembl rs2129073719, MetaLR 0.31, MetaSVM -0.36
- E71D (p.Glu71Asp), Ensembl rs1562994456, MetaLR 0.19, MetaSVM -0.81, Likely benign
- E71K (p.Glu71Lys), Ensembl rs2129073715
- H72Y (p.His72Tyr), cosmic curated COSV56107, Ensembl rs2129073711, MetaLR 0.26, MetaSVM -0.65
- P74L (p.Pro74Leu), rs2536569692, ClinGen CA369587727, ClinVar RCV003655808, Uncertain significance, RASopathy
- I77M (p.Ile77Met), rs2536569627, ClinGen CA369587704, ClinVar RCV002820949, Uncertain significance, RASopathy
- I77V (p.Ile77Val), rs764408896, ClinGen CA4517020, ClinVar RCV001985544, ClinVar RCV002442952, MetaLR 0.36, MetaSVM -0.27, Uncertain significance, Cardiovascular phenotype; Noonan syndrome 7; not provided
- A81P (p.Ala81Pro), Ensembl rs2129062330
- A81S (p.Ala81Ser), Ensembl rs2129062330
- A81T (p.Ala81Thr), Ensembl rs2129062330, Uncertain significance, RASopathy
- A81V (p.Ala81Val), rs1371538157, ClinGen CA369593970, ClinVar RCV003654553, gnomAD rs1371538157, MetaLR 0.35, MetaSVM -0.28, Uncertain significance, RASopathy
- Y82C (p.Tyr82Cys), rs2129062326, ClinGen CA369593965, ClinVar RCV003083474, ClinVar RCV006554672, MetaLR 0.75, MetaSVM 0.64, Uncertain significance, Noonan syndrome 7; RASopathy
- Y82F (p.Tyr82Phe), Ensembl rs2129062326, Uncertain significance
- Y82H (p.Tyr82His), cosmic curated COSV10517, Ensembl rs2129062327
- E83* (p.Glu83Ter), ExAC rs753354016, TOPMed rs753354016, gnomAD rs753354016, Uncertain significance
- E83D (p.Glu83Asp), Ensembl rs2129062323
- E83K (p.Glu83Lys), rs753354016, ClinGen CA4516997, ClinVar RCV001043159, ExAC rs753354016, MetaLR 0.27, MetaSVM -0.46, Uncertain significance, RASopathy
- E83Q (p.Glu83Gln), ExAC rs753354016, TOPMed rs753354016, gnomAD rs753354016, Uncertain significance
- E84* (p.Glu84Ter), Ensembl rs2129062321
- E84Q (p.Glu84Gln), Ensembl rs2129062321
- Y85* (p.Tyr85Ter), TOPMed rs1176038288, gnomAD rs1176038288
- Y85C (p.Tyr85Cys), rs1131691387, ClinGen CA369593942, ClinVar RCV000588426, ClinVar RCV002291648, MetaLR 0.42, MetaSVM -0.04, Uncertain significance, Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
- Y85F (p.Tyr85Phe), TOPMed rs1131691387, gnomAD rs1131691387, Uncertain significance
- T86I (p.Thr86Ile), Ensembl rs2129062317
- T86S (p.Thr86Ser), ExAC rs765883358, gnomAD rs765883358
- S87G (p.Ser87Gly), rs876661018, ClinGen CA10577327, cosmic curated COSV10517, ClinVar RCV000223377, MetaLR 0.33, MetaSVM -0.38, Conflicting interpretations, Cardiovascular phenotype; not provided; RASopathy
- S87I (p.Ser87Ile), TOPMed rs1033856250, Uncertain significance
- S87N (p.Ser87Asn), rs1033856250, ClinGen CA168127419, ClinVar RCV001590546, ClinVar RCV003539395, MetaLR 0.36, MetaSVM -0.26, Uncertain significance, Cardiofaciocutaneous syndrome 1; Melanoma, cutaneous malignant, susceptibility t
- S87T (p.Ser87Thr), TOPMed rs1033856250, Uncertain significance
- K88* (p.Lys88Ter), Ensembl rs2129062306
- K88M (p.Lys88Met), Ensembl rs2129062303
- L89R (p.Leu89Arg), Ensembl rs2129062300
- D90H (p.Asp90His), Ensembl rs2129062297
- D90Y (p.Asp90Tyr), Ensembl rs2129062297
- A91G (p.Ala91Gly), rs886041256, ClinGen CA369593902, ClinVar RCV002033139, Ensembl rs886041256, MetaLR 0.22, MetaSVM -0.65, Uncertain significance, RASopathy
- A91P (p.Ala91Pro), Ensembl rs2129062291, Uncertain significance
- A91S (p.Ala91Ser), rs2129062291, ClinGen CA369593904, cosmic curated COSV10517, ClinVar RCV001795611, AlphaMissense 1.00, MetaLR 0.24, Uncertain significance, BRAF-related spectrum disorder
- A91T (p.Ala91Thr), Ensembl rs2129062291, Uncertain significance
- A91V (p.Ala91Val), rs886041256, ClinGen CA10603007, cosmic curated COSV56137, ClinVar RCV000278430, MetaLR 0.25, MetaSVM -0.69, Uncertain significance, RASopathy; not provided
- L92F (p.Leu92Phe), Ensembl rs2129062285, MetaLR 0.52, MetaSVM -0.06
- L92H (p.Leu92His), Ensembl rs2129062281
- L92P (p.Leu92Pro), Ensembl rs2129062281
- L92V (p.Leu92Val), Ensembl rs2129062285
- Q93H (p.Gln93His), rs150050723, TOPMed rs150050723, ClinGen CA369593889, ClinVar RCV003870486, AlphaMissense 0.96, MetaLR 0.42, Uncertain significance, RASopathy
- Q93K (p.Gln93Lys), gnomAD rs1246425730
- Q94E (p.Gln94Glu), TOPMed rs1002421360, gnomAD rs1002421360, Uncertain significance
- Q94K (p.Gln94Lys), rs1002421360, ClinGen CA168127413, ClinVar RCV002030123, ClinVar RCV003913422, MetaLR 0.25, MetaSVM -0.64, Uncertain significance, RASopathy
- Q94R (p.Gln94Arg), rs1562985576, ClinGen CA369593885, ClinVar RCV000779850, ClinVar RCV006629207, MetaLR 0.30, MetaSVM -0.49, Uncertain significance, not specified; RASopathy
- R95T (p.Arg95Thr), rs1554409395, NCI-TCGA Cosmic COSV5630, cosmic curated COSV56306, Ensembl rs1554409395, AlphaMissense 0.98, MetaLR 0.36, Benign
- E96* (p.Glu96Ter), gnomAD rs1206928359
- E96D (p.Glu96Asp), ESP rs373545899, ExAC rs373545899, TOPMed rs373545899, gnomAD rs373545899, Likely benign
- E96G (p.Glu96Gly), 1000Genomes rs2129062267, MetaLR 0.66, MetaSVM 0.42
- E96K (p.Glu96Lys), gnomAD rs1206928359, MetaLR 0.64, MetaSVM 0.30
- E96Q (p.Glu96Gln), gnomAD rs1206928359
- Q97* (p.Gln97Ter), Ensembl rs2129062259
- Q97E (p.Gln97Glu), Ensembl rs2129062259
- Q97H (p.Gln97His), Ensembl rs2129062258, Likely benign
- Q98* (p.Gln98Ter), Ensembl rs2129062255
- Q98E (p.Gln98Glu), Ensembl rs2129062255
- Q98H (p.Gln98His), gnomAD rs906516903, MetaLR 0.30, MetaSVM -0.56, Likely benign
- Q98L (p.Gln98Leu), TOPMed rs1807145101
- Q98R (p.Gln98Arg), TOPMed rs1807145101
Public BRAF analysis runs
- BRAF analysis run — BRAF (1,977 variants) — completed 2026-08-09