CDK4 (Cyclin-dependent kinase 4) variants and mutations
CDK4 (also known as Cyclin-dependent kinase 4) is a human protein-coding gene encoding a cyclin-dependent kinase 4 protein. Together with D-type cyclins, it phosphorylates RB-family proteins and commits cells to progress from G1 toward DNA replication. Amplification or pathway activation is common in cancer, while rare activating germline variants predispose to familial melanoma. This analysis covers 1,551 CDK4 variants and mutations. Of these, 41% have computational variant effect predictions. Disease context includes melanoma, cutaneous malignant, susceptibility to, 3, breast carcinoma, and breast cancer. Example CDK4 variants include A2P, A2S, and A2T.
Variant analysis overview
- Gene: CDK4
- Protein: Cyclin-dependent kinase 4
- UniProt accession: P11802
- Organism: Homo sapiens
- Variants analyzed: 1551
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,457 unspecified-consequence records; 3 stop lost; 1 stop retained variant; 62 synonymous variants; 7 frameshift variants; 13 missense variants; 1 in-frame deletions; 7 substitution
- Prediction scores: 638 variants have prediction scores (41% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: melanoma, cutaneous malignant, susceptibility to, 3, breast carcinoma, breast cancer, small cell lung carcinoma, familial melanoma, neurodegenerative disease, Alzheimer disease, neoplasm, breast neoplasm, multiple sclerosis, Parkinson disease, lysosomal storage disease.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 binding sites; 2 post-translational modification sites.
- Structural context: 1,480 variants have structural context.
- PTM context: 9 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 CDK4 variants
Examples include A2P, A2S, A2T, A2V, T3A, T3I, T3N, T3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2P (p.Ala2Pro), gnomAD rs1483991096, Uncertain significance
- A2S (p.Ala2Ser), gnomAD rs1483991096, Uncertain significance
- A2T (p.Ala2Thr), rs1483991096, ClinGen CA385549377, cosmic curated COSV56986, ClinVar RCV000805427, REVEL 0.09, CADD 21.60, Uncertain significance, Familial melanoma
- A2V (p.Ala2Val), rs2540904377, ClinGen CA385549363, ClinVar RCV003306731, Uncertain significance, Hereditary cancer-predisposing syndrome
- T3A (p.Thr3Ala), rs2140388808, ClinGen CA385549355, ClinVar RCV004520398, Ensembl rs2140388808, AlphaMissense 0.09, MetaLR 0.07, Likely benign, Hereditary cancer-predisposing syndrome
- T3I (p.Thr3Ile), ExAC rs745530249, gnomAD rs745530249
- T3N (p.Thr3Asn), cosmic curated COSV10956, ExAC rs745530249, gnomAD rs745530249, REVEL 0.07, CADD 19.80
- T3P (p.Thr3Pro), Ensembl rs2140388808, Likely benign
- T3S (p.Thr3Ser), Ensembl rs2140388808, REVEL 0.04, AlphaMissense 0.09, Likely benign
- S4C (p.Ser4Cys), rs1227101024, ClinGen CA385549325, ClinVar RCV003747133, gnomAD rs1227101024, REVEL 0.10, CADD 23.70, Uncertain significance, Familial melanoma
- S4F (p.Ser4Phe), rs1227101024, ClinGen CA385549321, cosmic curated COSV10585, ClinVar RCV002347063, REVEL 0.13, CADD 23.90, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- S4P (p.Ser4Pro), cosmic curated COSV56985, Ensembl rs2140388793
- S4T (p.Ser4Thr), Ensembl rs2140388793, REVEL 0.10, CADD 14.30
- S4Y (p.Ser4Tyr), rs1227101024, ClinGen CA385549328, ClinVar RCV001225758, ClinVar RCV005012639, REVEL 0.06, CADD 23.80, Uncertain significance, Familial melanoma; Melanoma, cutaneous malignant, susceptibility to, 3
- R5* (p.Arg5Ter), rs1595111256, ClinGen CA385549315, cosmic curated COSV10585, ClinVar RCV003747078, CADD 38.00, Uncertain significance
- R5G (p.Arg5Gly), rs1595111256, ClinGen CA385549317, ClinVar RCV001011395, ClinVar RCV002551743, REVEL 0.13, CADD 24.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial melanoma
- R5L (p.Arg5Leu), TOPMed rs1031329993, gnomAD rs1031329993, Likely benign
- R5P (p.Arg5Pro), TOPMed rs1031329993, gnomAD rs1031329993, Likely benign
- R5Q (p.Arg5Gln), rs1031329993, ClinGen CA16619578, ClinVar RCV000479385, ClinVar RCV000562440, REVEL 0.10, CADD 22.60, Conflicting interpretations, Familial melanoma; not provided; Hereditary cancer-predisposing syndrome
- Y6* (p.Tyr6Ter), Ensembl rs2140388773
- Y6D (p.Tyr6Asp), Ensembl rs2140388780, Uncertain significance
- Y6F (p.Tyr6Phe), Ensembl rs2140388775
- Y6H (p.Tyr6His), rs2140388780, ClinGen CA385549301, ClinVar RCV002013763, Ensembl rs2140388780, AlphaMissense 0.94, MetaLR 0.56, Uncertain significance, Familial melanoma
- Y6N (p.Tyr6Asn), Ensembl rs2140388780, Uncertain significance
- E7* (p.Glu7Ter), TOPMed rs1000052939, Uncertain significance
- E7D (p.Glu7Asp), Ensembl rs2140388761, Likely benign
- E7K (p.Glu7Lys), rs1000052939, ClinGen CA237844611, ClinVar RCV000533639, ClinVar RCV000709235, REVEL 0.36, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- E7Q (p.Glu7Gln), TOPMed rs1000052939, Uncertain significance
- E7V (p.Glu7Val), Ensembl rs2140388767
- P8A (p.Pro8Ala), Ensembl rs2140388759
- P8L (p.Pro8Leu), Ensembl rs2140388756, REVEL 0.21, CADD 23.40
- P8R (p.Pro8Arg), Ensembl rs2140388756
- P8S (p.Pro8Ser), Ensembl rs2140388759
- P8T (p.Pro8Thr), Ensembl rs2140388759
- V9E (p.Val9Glu), Ensembl rs2140388747
- V9G (p.Val9Gly), Ensembl rs2140388747
- V9L (p.Val9Leu), Ensembl rs2140388751, Uncertain significance, not provided
- V9M (p.Val9Met), NCI-TCGA Cosmic COSV5698, cosmic curated COSV56983, Ensembl rs2140388751, Uncertain significance
- A10D (p.Ala10Asp), cosmic curated COSV56984, Ensembl rs2140388740
- A10P (p.Ala10Pro), Ensembl rs1955239777, Uncertain significance
- A10S (p.Ala10Ser), Ensembl rs1955239777, Uncertain significance
- A10T (p.Ala10Thr), rs1955239777, ClinGen CA385549215, ClinVar RCV001235739, Ensembl rs1955239777, AlphaMissense 0.95, MetaLR 0.16, Uncertain significance, Familial melanoma
- E11* (p.Glu11Ter), rs2140388732, ClinGen CA385549186, ClinVar RCV001907400, Ensembl rs2140388732, AlphaMissense 0.44, MetaLR 0.14, Uncertain significance
- E11A (p.Glu11Ala), rs1595111239, ClinGen CA385549175, ClinVar RCV002454676, REVEL 0.31, CADD 25.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- E11G (p.Glu11Gly), Ensembl rs1595111239
- E11K (p.Glu11Lys), Ensembl rs2140388732, Uncertain significance
- E11Q (p.Glu11Gln), Ensembl rs2140388732, Uncertain significance
- E11V (p.Glu11Val), Ensembl rs1595111239
- I12F (p.Ile12Phe), Ensembl rs2140388723
- I12S (p.Ile12Ser), Ensembl rs2140388721
- I12T (p.Ile12Thr), rs2140388721, ClinGen CA385549150, ClinVar RCV003746134, AlphaMissense 0.93, MetaLR 0.40, Uncertain significance, Familial melanoma
- I12V (p.Ile12Val), Ensembl rs2140388723
- G13A (p.Gly13Ala), ExAC rs753152604, Uncertain significance
- G13C (p.Gly13Cys), Ensembl rs1336539869
- G13D (p.Gly13Asp), rs753152604, ClinGen CA385549135, ClinVar RCV001367068, ExAC rs753152604, AlphaMissense 0.97, MetaLR 0.61, Uncertain significance, Familial melanoma
- G13R (p.Gly13Arg), Ensembl rs1336539869
- G13S (p.Gly13Ser), Ensembl rs1336539869
- G13V (p.Gly13Val), rs753152604, ClinGen CA6657890, ClinVar RCV001979982, ClinVar RCV004946928, AlphaMissense 0.97, MetaLR 0.61, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- V14A (p.Val14Ala), rs2140388699, ClinGen CA385549125, ClinVar RCV003746224, Ensembl rs2140388699, AlphaMissense 0.19, MetaLR 0.11, Uncertain significance, Familial melanoma
- V14D (p.Val14Asp), Ensembl rs2140388699, Uncertain significance
- V14F (p.Val14Phe), TOPMed rs904476574, Uncertain significance, Familial melanoma
- V14G (p.Val14Gly), Ensembl rs2140388699, Uncertain significance
- V14I (p.Val14Ile), TOPMed rs904476574, Uncertain significance, Hereditary cancer-predisposing syndrome
- V14L (p.Val14Leu), TOPMed rs904476574
- G15A (p.Gly15Ala), Ensembl rs2140388684, Uncertain significance
- G15D (p.Gly15Asp), Ensembl rs2140388684, REVEL 0.96, AlphaMissense 0.93, Uncertain significance
- G15R (p.Gly15Arg), rs1355460580, ClinGen CA385549122, NCI-TCGA Cosmic COSV9922, AlphaMissense 0.95, MetaLR 0.95, Uncertain significance, Familial melanoma
- G15S (p.Gly15Ser), rs1355460580, ClinGen CA385549123, ClinVar RCV000539113, ClinVar RCV001022427, REVEL 0.93, AlphaMissense 0.95, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- G15V (p.Gly15Val), rs2140388684, ClinGen CA385549118, ClinVar RCV003746095, Ensembl rs2140388684, AlphaMissense 0.93, MetaLR 0.96, Uncertain significance, Familial melanoma
- A16D (p.Ala16Asp), Ensembl rs2140388668
- A16G (p.Ala16Gly), Ensembl rs2140388668
- A16S (p.Ala16Ser), Ensembl rs2140388675
- A16T (p.Ala16Thr), Ensembl rs2140388675, Uncertain significance, Hereditary cancer-predisposing syndrome
- A16V (p.Ala16Val), Ensembl rs2140388668
- Y17* (p.Tyr17Ter), rs2140388654, ClinGen CA385549105, ClinVar RCV002021393, Ensembl rs2140388654, Likely benign
- Y17C (p.Tyr17Cys), rs781527596, ClinGen CA6657889, ClinVar RCV001972060, ClinVar RCV005535162, REVEL 0.70, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial melanoma
- Y17H (p.Tyr17His), rs1555201383, ClinGen CA385549110, ClinVar RCV000527911, ClinVar RCV002341313, REVEL 0.51, CADD 31.00, Uncertain significance, Familial melanoma; Melanoma, cutaneous malignant, susceptibility to, 3; Heredita
- Y17N (p.Tyr17Asn), Ensembl rs1555201383, Uncertain significance
- G18A (p.Gly18Ala), Ensembl rs2140388646
- G18E (p.Gly18Glu), Ensembl rs2140388646
- G18R (p.Gly18Arg), Ensembl rs2140388651
- G18V (p.Gly18Val), Ensembl rs2140388646
- G18W (p.Gly18Trp), Ensembl rs2140388651
- T19A (p.Thr19Ala), rs1595111197, ClinGen CA385549087, ClinVar RCV001223303, ClinVar RCV002348747, AlphaMissense 0.27, MetaLR 0.15, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- T19I (p.Thr19Ile), rs2140388639, ClinGen CA385549081, cosmic curated COSV10956, ClinVar RCV002347555, REVEL 0.37, AlphaMissense 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome
- T19R (p.Thr19Arg), rs2140388639, ClinGen CA385549082, ClinVar RCV002347550, Ensembl rs2140388639, AlphaMissense 0.48, MetaLR 0.15, Uncertain significance, Hereditary cancer-predisposing syndrome
- V20A (p.Val20Ala), rs755549181, ClinGen CA6657888, ClinVar RCV003840393, ExAC rs755549181, AlphaMissense 0.95, MetaLR 0.59, Uncertain significance, Familial melanoma
- V20E (p.Val20Glu), ExAC rs755549181, Uncertain significance
- V20G (p.Val20Gly), ExAC rs755549181, Uncertain significance
- V20L (p.Val20Leu), gnomAD rs1297848043
- V20M (p.Val20Met), gnomAD rs1297848043
- Y21* (p.Tyr21Ter), Ensembl rs2140388619, Benign
- Y21D (p.Tyr21Asp), Ensembl rs2140388622
- Y21H (p.Tyr21His), Ensembl rs2140388622
- Y21N (p.Tyr21Asn), Ensembl rs2140388622
- K22M (p.Lys22Met), NCI-TCGA Cosmic COSV5698, cosmic curated COSV56984, TOPMed rs1955239202, Uncertain significance
- K22N (p.Lys22Asn), 1000Genomes rs143918215, ExAC rs143918215, gnomAD rs143918215
- K22Q (p.Lys22Gln), rs1555201381, ClinGen CA385549047, NCI-TCGA Cosmic COSV5698, cosmic curated COSV56983, AlphaMissense 0.80, MetaLR 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- K22R (p.Lys22Arg), cosmic curated COSV56985, TOPMed rs1955239202, Uncertain significance
- K22T (p.Lys22Thr), TOPMed rs1955239202, Uncertain significance, Hereditary cancer-predisposing syndrome
- A23D (p.Ala23Asp), Ensembl rs2140388600
- A23G (p.Ala23Gly), Ensembl rs2140388600
- A23P (p.Ala23Pro), Ensembl rs2140388604, Uncertain significance
- A23S (p.Ala23Ser), rs2140388604, ClinGen CA385549025, NCI-TCGA Cosmic COSV5698, cosmic curated COSV56985, AlphaMissense 0.98, MetaLR 0.51, Uncertain significance, Hereditary cancer-predisposing syndrome
- A23T (p.Ala23Thr), Ensembl rs2140388604, Uncertain significance
- A23V (p.Ala23Val), Ensembl rs2140388600
- R24C (p.Arg24Cys), rs11547328, Civic 556, ClinGen CA126982, NCI-TCGA Cosmic COSV5698, REVEL 0.58, AlphaMissense 0.81, Pathogenic, Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- R24G (p.Arg24Gly), rs11547328, ClinGen CA385549015, ClinVar RCV001874940, ExAC rs11547328, REVEL 0.59, AlphaMissense 0.81, Uncertain significance, Familial melanoma
- R24H (p.Arg24His), rs104894340, ClinGen CA126984, NCI-TCGA Cosmic COSV5698, AlphaMissense 0.37, MetaLR 0.12, Pathogenic, Familial melanoma; Hereditary cancer-predisposing syndrome
- R24L (p.Arg24Leu), rs104894340, NCI-TCGA Cosmic COSV5698, cosmic curated COSV56983, AlphaMissense 0.37, MetaLR 0.12, Pathogenic, in CMM3
- R24P (p.Arg24Pro), Ensembl rs104894340, Uncertain significance, Familial melanoma
- R24S (p.Arg24Ser), rs11547328, NCI-TCGA Cosmic COSV5698, cosmic curated COSV56985, AlphaMissense 0.81, MetaLR 0.24, Pathogenic, in CMM3
- D25E (p.Asp25Glu), Ensembl rs2140388578
- D25G (p.Asp25Gly), Ensembl rs2140388580
- D25H (p.Asp25His), gnomAD rs1955239001
- D25N (p.Asp25Asn), gnomAD rs1955239001, REVEL 0.25, CADD 29.40
- D25V (p.Asp25Val), Ensembl rs2140388580
- D25Y (p.Asp25Tyr), gnomAD rs1955239001
- P26A (p.Pro26Ala), Ensembl rs1955238972
- P26H (p.Pro26His), rs199609381, ClinGen CA237844587, ClinVar RCV004520396, Ensembl rs199609381, AlphaMissense 0.23, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- P26L (p.Pro26Leu), cosmic curated COSV10456, Ensembl rs199609381, Uncertain significance
- P26R (p.Pro26Arg), Ensembl rs199609381, Uncertain significance
- P26S (p.Pro26Ser), cosmic curated COSV56983, Ensembl rs1955238972, REVEL 0.10, CADD 21.20, Uncertain significance, Familial melanoma
- H27D (p.His27Asp), Ensembl rs2140388560
- H27N (p.His27Asn), Ensembl rs2140388560
- H27P (p.His27Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- H27Q (p.His27Gln), Ensembl rs2140388556, Benign
- H27Y (p.His27Tyr), Ensembl rs2140388560, Uncertain significance, Familial melanoma
- S28C (p.Ser28Cys), Ensembl rs2140388551, Uncertain significance
- S28G (p.Ser28Gly), rs2140388551, ClinGen CA385548967, ClinVar RCV003040713, Ensembl rs2140388551, AlphaMissense 0.17, MetaLR 0.21, Uncertain significance, Familial melanoma
- S28I (p.Ser28Ile), Ensembl rs2140388546
- S28N (p.Ser28Asn), Ensembl rs2140388546
- S28R (p.Ser28Arg), ExAC rs763203404, TOPMed rs763203404, gnomAD rs763203404, Uncertain significance, Hereditary cancer-predisposing syndrome
- S28T (p.Ser28Thr), Ensembl rs2140388546
- G29C (p.Gly29Cys), TOPMed rs1955238835, Uncertain significance
- G29R (p.Gly29Arg), TOPMed rs1955238835, Uncertain significance, Hereditary cancer-predisposing syndrome
- G29S (p.Gly29Ser), rs1955238835, ClinGen CA385548950, ClinVar RCV002447985, TOPMed rs1955238835, AlphaMissense 0.57, MetaLR 0.24, Uncertain significance, Hereditary cancer-predisposing syndrome
- H30D (p.His30Asp), ExAC rs750707985, gnomAD rs750707985, Uncertain significance
- H30N (p.His30Asn), ExAC rs750707985, gnomAD rs750707985, Uncertain significance
- H30P (p.His30Pro), Ensembl rs2140388523
- H30Q (p.His30Gln), rs2140388517, ClinGen CA385548922, ClinVar RCV004520401, Ensembl rs2140388517, AlphaMissense 0.14, MetaLR 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome
- H30R (p.His30Arg), Ensembl rs2140388523
- H30Y (p.His30Tyr), rs750707985, ClinGen CA6657886, ClinVar RCV001018479, ClinVar RCV001308785, REVEL 0.15, CADD 24.10, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- F31I (p.Phe31Ile), Ensembl rs2140388516, Uncertain significance, Hereditary cancer-predisposing syndrome
- F31L (p.Phe31Leu), rs1595111145, ClinGen CA385548907, ClinVar RCV001019279, ClinVar RCV003746578, AlphaMissense 0.93, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial melanoma
- V32A (p.Val32Ala), gnomAD rs1425071781, REVEL 0.51, CADD 29.50, Uncertain significance, Melanoma, cutaneous malignant, susceptibility to, 3
- V32E (p.Val32Glu), gnomAD rs1425071781, Uncertain significance
- V32G (p.Val32Gly), gnomAD rs1425071781, Uncertain significance
- V32L (p.Val32Leu), gnomAD rs1184705669
- V32M (p.Val32Met), gnomAD rs1184705669, REVEL 0.35, CADD 27.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- A33G (p.Ala33Gly), Ensembl rs2140388501
- A33P (p.Ala33Pro), Ensembl rs2140388502
- A33S (p.Ala33Ser), Ensembl rs2140388502
- A33T (p.Ala33Thr), Ensembl rs2140388502, REVEL 0.65, CADD 28.40
- A33V (p.Ala33Val), rs2140388501, ClinGen CA385548885, ClinVar RCV003341887, ClinVar RCV005104015, REVEL 0.71, CADD 31.00, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- L34F (p.Leu34Phe), cosmic curated COSV56986, Ensembl rs2140388499
- L34I (p.Leu34Ile), Ensembl rs2140388499, Uncertain significance, Familial melanoma
- L34P (p.Leu34Pro), Ensembl rs2140388492
- L34V (p.Leu34Val), Ensembl rs2140388499
- K35* (p.Lys35Ter), Ensembl rs2140388483
- K35E (p.Lys35Glu), Ensembl rs2140388483
- K35M (p.Lys35Met), rs2140388477, ClinGen CA385548862, ClinVar RCV003278180, ClinVar RCV006561381, REVEL 0.92, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial melanoma
- K35N (p.Lys35Asn), cosmic curated COSV99225, Ensembl rs2140388473, Likely benign
- K35R (p.Lys35Arg), rs2140388477, ClinGen CA385548863, NCI-TCGA Cosmic COSV5698, cosmic curated COSV56983, REVEL 0.87, CADD 31.00, Uncertain significance, Familial melanoma
- K35T (p.Lys35Thr), Ensembl rs2140388477, Uncertain significance
- S36C (p.Ser36Cys), Ensembl rs2140388472
- S36G (p.Ser36Gly), Ensembl rs2140388472, Likely benign, Hereditary cancer-predisposing syndrome
- S36I (p.Ser36Ile), Ensembl rs1955238564, Uncertain significance
- S36N (p.Ser36Asn), rs1955238564, ClinGen CA385548849, ClinVar RCV002424379, ClinVar RCV003098624, AlphaMissense 0.20, MetaLR 0.06, Uncertain significance, Familial melanoma; Hereditary cancer-predisposing syndrome
- S36R (p.Ser36Arg), Ensembl rs2140388466, REVEL 0.25, CADD 15.20, Benign
- S36T (p.Ser36Thr), rs1955238564, ClinGen CA385548847, ClinVar RCV001071990, Ensembl rs1955238564, AlphaMissense 0.20, MetaLR 0.06, Uncertain significance, Familial melanoma
- V37E (p.Val37Glu), Ensembl rs2140388464
- V37G (p.Val37Gly), Ensembl rs2140388464
- V37L (p.Val37Leu), TOPMed rs1060501930, gnomAD rs1060501930, Uncertain significance
- V37M (p.Val37Met), rs1060501930, ClinGen CA16613852, ClinVar RCV000460166, ClinVar RCV001017293, REVEL 0.19, CADD 23.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial melanoma; not provided
- R38S (p.Arg38Ser), Ensembl rs2140388452, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R38T (p.Arg38Thr), Ensembl rs2140388455, REVEL 0.33, CADD 23.60, Uncertain significance, Familial melanoma
- V39A (p.Val39Ala), rs1955238404, ClinGen CA385548808, ClinVar RCV001319295, ClinVar RCV005306400, REVEL 0.35, CADD 28.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial melanoma
- V39D (p.Val39Asp), gnomAD rs1955238404, Uncertain significance
- V39F (p.Val39Phe), Ensembl rs2140388448
Public CDK4 analysis runs
- CDK4 analysis run — CDK4 (1,551 variants) — completed 2026-08-18