CYP4F2 (Cytochrome P450 4F2) variants and mutations
CYP4F2 (also known as Cytochrome P450 4F2) is a human protein-coding gene encoding a cytochrome P450 4F2 protein. It oxidizes vitamin K1, vitamin E, fatty acids, and eicosanoids. Common functional variants can reduce vitamin K catabolism and modestly increase warfarin dose requirements. This analysis covers 962 CYP4F2 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes peripheral neuropathy, diabetic neuropathy, and response to anticoagulant. Example CYP4F2 variants include S2F, Q3*, and Q3H.
Variant analysis overview
- Gene: CYP4F2
- Protein: Cytochrome P450 4F2
- UniProt accession: P78329
- Organism: Homo sapiens
- Variants analyzed: 962
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 723 unspecified-consequence records; 113 missense variants; 93 synonymous variants; 17 frameshift variants; 8 stop-gained variants; 1 stop lost; 1 splice-region variants; 1 in-frame insertions; 1 protein altering variant; 1 in-frame deletions; 1 substitution
- Prediction scores: 908 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: peripheral neuropathy, diabetic neuropathy, response to anticoagulant, autonomic nervous system disorder, ulcer of lower limb, peripheral nervous system disorder, coronary artery disorder, retinitis pigmentosa, early-onset non-syndromic cataract, Posterior polar cataract, Progressive cone dystrophy, early-onset zonular cataract.
Protein structure and variant hotspots
- Protein features: 2 binding sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable CYP4F2 variants
Examples include S2F, Q3*, Q3H, Q3K, L4P, S5G, S5R, S7F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2F (p.Ser2Phe), 1000Genomes rs144146357, ESP rs144146357, ExAC rs144146357, TOPMed rs144146357, REVEL 0.21, CADD 7.11
- Q3* (p.Gln3Ter), TOPMed rs373347674
- Q3H (p.Gln3His), ExAC rs781254717, TOPMed rs781254717, gnomAD rs781254717, REVEL 0.27, CADD 4.16
- Q3K (p.Gln3Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L4P (p.Leu4Pro), cosmic curated COSV50001, gnomAD rs1161180332, REVEL 0.34, CADD 17.20
- S5G (p.Ser5Gly), ExAC rs757324711, gnomAD rs757324711, REVEL 0.32, CADD 10.70
- S5R (p.Ser5Arg), ExAC rs757324711, gnomAD rs757324711
- S7F (p.Ser7Phe), 1000Genomes rs3093104, ESP rs3093104, ExAC rs3093104, TOPMed rs3093104, REVEL 0.42, CADD 22.20
- S7Y (p.Ser7Tyr), rs3093104, UniProt VAR 013116, 1000Genomes rs3093104, ESP rs3093104, REVEL 0.47, CADD 23.30
- W8* (p.Trp8Ter), ExAC rs757863282, TOPMed rs757863282, gnomAD rs757863282, CADD 39.00
- W8C (p.Trp8Cys), TOPMed rs1172572612, gnomAD rs1172572612, REVEL 0.45, CADD 22.50
- L9R (p.Leu9Arg), Ensembl rs1599359299
- L9V (p.Leu9Val), TOPMed rs2089455938
- G10S (p.Gly10Ser), TOPMed rs2089455909, REVEL 0.54, CADD 23.10
- L11H (p.Leu11His), TOPMed rs2089455865
- W12C (p.Trp12Cys), Ensembl rs2906891, MetaLR 0.12, MetaSVM -0.86
- W12G (p.Trp12Gly), rs3093105, cosmic curated COSV50000, UniProt VAR 013117, 1000Genomes rs3093105, REVEL 0.18, CADD 1.39
- P13Q (p.Pro13Gln), Ensembl rs2906890
- P13R (p.Pro13Arg), Ensembl rs2906890, MetaLR 0.59, MetaSVM -0.30
- V14G (p.Val14Gly), TOPMed rs2089455712
- V14L (p.Val14Leu), NCI-TCGA Cosmic COSV5000, cosmic curated COSV50000, Variant assessed as somatic; moderate impact.
- A15E (p.Ala15Glu), ExAC rs768006084, gnomAD rs768006084, REVEL 0.42, CADD 5.82
- A15S (p.Ala15Ser), ExAC rs750841607, TOPMed rs750841607, gnomAD rs750841607, REVEL 0.24, CADD 4.38
- A15T (p.Ala15Thr), ExAC rs750841607, TOPMed rs750841607, gnomAD rs750841607, REVEL 0.23, CADD 6.19
- A16G (p.Ala16Gly), gnomAD rs1229553839, MetaLR 0.64, MetaSVM -0.37
- A16P (p.Ala16Pro), rs114099324, ClinGen CA9274179, ClinVar RCV003969247, 1000Genomes rs114099324, REVEL 0.31, CADD 13.60, Benign, CYP4F2-related disorder
- S17C (p.Ser17Cys), cosmic curated COSV50000, Ensembl rs2089455567
- S17P (p.Ser17Pro), TOPMed rs1277369399, gnomAD rs1277369399, REVEL 0.39, CADD 21.10
- P18H (p.Pro18His), Ensembl rs976769104, REVEL 0.28, CADD 12.90
- W19* (p.Trp19Ter), ExAC rs774851927, gnomAD rs774851927
- W19C (p.Trp19Cys), ExAC rs764183403, TOPMed rs764183403, gnomAD rs764183403, REVEL 0.50, CADD 22.70
- L20P (p.Leu20Pro), gnomAD rs1321167308, REVEL 0.34, CADD 10.10
- L21F (p.Leu21Phe), ExAC rs762975146, gnomAD rs762975146, REVEL 0.26, CADD 7.88
- L21P (p.Leu21Pro), NCI-TCGA Cosmic COSV5000, cosmic curated COSV50000, Variant assessed as somatic; moderate impact.
- L22F (p.Leu22Phe), ExAC rs769961014, TOPMed rs769961014, gnomAD rs769961014, REVEL 0.34, CADD 6.72
- L22V (p.Leu22Val), ExAC rs769961014, TOPMed rs769961014, gnomAD rs769961014, REVEL 0.41, CADD 5.40
- L23R (p.Leu23Arg), gnomAD rs2089455371, REVEL 0.68, CADD 21.20
- L24M (p.Leu24Met), rs776637825, ClinGen CA9274172, ClinVar RCV004310063, ExAC rs776637825, REVEL 0.48, CADD 16.90, Uncertain significance, not specified
- V25I (p.Val25Ile), Ensembl rs964512548, REVEL 0.17, CADD 0.01
- G26E (p.Gly26Glu), ExAC rs777597441, gnomAD rs777597441, REVEL 0.36, CADD 16.80
- G26R (p.Gly26Arg), TOPMed rs989944199, gnomAD rs989944199, REVEL 0.38, CADD 14.20
- G26V (p.Gly26Val), NCI-TCGA TCGA novel, MetaLR 0.89, MetaSVM 0.65, Variant assessed as somatic; moderate impact.
- G26W (p.Gly26Trp), NCI-TCGA TCGA novel, REVEL 0.40, CADD 20.30, Variant assessed as somatic; moderate impact.
- A27G (p.Ala27Gly), ExAC rs771576634, gnomAD rs771576634, REVEL 0.17, CADD 1.41
- A27V (p.Ala27Val), ExAC rs771576634, gnomAD rs771576634, REVEL 0.14, CADD 0.76
- S28F (p.Ser28Phe), rs765329980, gnomAD 19-15879360-G-A, CADD 11.90, SIFT 0.12
- W29L (p.Trp29Leu), gnomAD rs1273845586, REVEL 0.46, CADD 19.00
- A32T (p.Ala32Thr), gnomAD rs1197595235, REVEL 0.23, CADD 9.85
- H33Q (p.His33Gln), 1000Genomes rs139237854, ESP rs139237854, ExAC rs139237854, TOPMed rs139237854, REVEL 0.20, CADD 0.17, Uncertain significance, not specified
- H33R (p.His33Arg), Ensembl rs1018295266, REVEL 0.20, CADD 0.18
- L35V (p.Leu35Val), ExAC rs753492444, gnomAD rs753492444, REVEL 0.30, CADD 9.86
- A36T (p.Ala36Thr), ExAC rs781477917, REVEL 0.19, CADD 5.56
- A36V (p.Ala36Val), NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, REVEL 0.28, CADD 10.90, Variant assessed as somatic; moderate impact.
- W37* (p.Trp37Ter), ESP rs146861328, ExAC rs146861328, TOPMed rs146861328, gnomAD rs146861328, CADD 36.00
- T38I (p.Thr38Ile), gnomAD 19-15879405-G-A, CADD 1.16, SIFT 0.05
- T38M (p.Thr38Met), rs533748322, gnomAD 19-15879423-G-A, CADD 0.27, SIFT 0.48
- Y39* (p.Tyr39Ter), NCI-TCGA Cosmic COSV5000, cosmic curated COSV50002, Variant assessed as somatic; high impact.
- A40D (p.Ala40Asp), NCI-TCGA TCGA novel, MetaLR 0.59, MetaSVM -0.49, Variant assessed as somatic; moderate impact.
- A40S (p.Ala40Ser), 1000Genomes rs201106180, ExAC rs201106180, TOPMed rs201106180, gnomAD rs201106180, REVEL 0.20, CADD 0.00, Uncertain significance, not specified
- A40T (p.Ala40Thr), cosmic curated COSV99171, 1000Genomes rs201106180, ExAC rs201106180, TOPMed rs201106180, REVEL 0.22, CADD 0.00
- A40V (p.Ala40Val), TOPMed rs1358208108, REVEL 0.15, CADD 8.07
- Y42C (p.Tyr42Cys), TOPMed rs2089454743, REVEL 0.37, CADD 15.80
- C45Y (p.Cys45Tyr), ExAC rs765494621, TOPMed rs765494621, gnomAD rs765494621, REVEL 0.22, CADD 0.17, Uncertain significance, not specified
- R46C (p.Arg46Cys), rs559132777, ClinGen CA9274152, ClinVar RCV004370555, 1000Genomes rs559132777, REVEL 0.23, CADD 4.87, Uncertain significance, not specified
- R46G (p.Arg46Gly), cosmic curated COSV50003, 1000Genomes rs559132777, ExAC rs559132777, TOPMed rs559132777, REVEL 0.29, CADD 8.01, Uncertain significance
- R46H (p.Arg46His), cosmic curated COSV50002, 1000Genomes rs141050546, ESP rs141050546, ExAC rs141050546, REVEL 0.22, CADD 1.09
- R46L (p.Arg46Leu), 1000Genomes rs141050546, ESP rs141050546, ExAC rs141050546, TOPMed rs141050546, REVEL 0.24, CADD 1.19
- R47C (p.Arg47Cys), cosmic curated COSV50000, 1000Genomes rs115517770, ExAC rs115517770, TOPMed rs115517770, REVEL 0.23, CADD 18.40
- R47H (p.Arg47His), rs570092372, NCI-TCGA Cosmic COSV5000, cosmic curated COSV50000, REVEL 0.14, CADD 4.60, Variant assessed as somatic; moderate impact.
- R47S (p.Arg47Ser), 1000Genomes rs115517770, ExAC rs115517770, TOPMed rs115517770, gnomAD rs115517770, REVEL 0.29, CADD 13.20
- L48F (p.Leu48Phe), NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, Variant assessed as somatic; moderate impact.
- L48H (p.Leu48His), rs763421194, gnomAD 19-15879378-A-T, CADD 6.65, SIFT 0.16
- L48R (p.Leu48Arg), rs763421194, gnomAD 19-15879378-A-C, CADD 6.79, SIFT 0.04
- R49Q (p.Arg49Gln), 1000Genomes rs201380574, ESP rs201380574, ExAC rs201380574, TOPMed rs201380574, REVEL 0.19, CADD 0.04
- R49W (p.Arg49Trp), rs771958577, NCI-TCGA Cosmic COSV5000, cosmic curated COSV50000, ExAC rs771958577, REVEL 0.21, CADD 22.60, Variant assessed as somatic; moderate impact.
- F51S (p.Phe51Ser), NCI-TCGA TCGA novel, MetaLR 0.82, MetaSVM 0.24, Variant assessed as somatic; high impact.
- P52T (p.Pro52Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q53* (p.Gln53Ter), ExAC rs748890100, TOPMed rs748890100, gnomAD rs748890100, CADD 36.00
- Q53R (p.Gln53Arg), TOPMed rs898759776, gnomAD rs898759776, REVEL 0.36, CADD 15.00
- P54A (p.Pro54Ala), gnomAD rs1204235157, REVEL 0.60, CADD 22.70
- P54S (p.Pro54Ser), gnomAD rs1204235157, REVEL 0.59, CADD 23.10
- P55L (p.Pro55Leu), TOPMed rs1444158492, gnomAD rs1444158492, REVEL 0.40, CADD 22.50, Uncertain significance, not specified
- P55Q (p.Pro55Gln), NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, Variant assessed as somatic; moderate impact.
- P55R (p.Pro55Arg), TOPMed rs1444158492, gnomAD rs1444158492, MetaLR 0.43, MetaSVM -0.14
- R56I (p.Arg56Ile), NCI-TCGA Cosmic COSV1043, cosmic curated COSV10437, NCI-TCGA Cosmic COSV5000, MetaLR 0.45, MetaSVM -0.66, Variant assessed as somatic; moderate impact.
- R57G (p.Arg57Gly), NCI-TCGA Cosmic COSV5000, cosmic curated COSV50001, Variant assessed as somatic; moderate impact.
- R57L (p.Arg57Leu), cosmic curated COSV10874, TOPMed rs868834988, gnomAD rs868834988, REVEL 0.18, CADD 2.74, Uncertain significance
- R57Q (p.Arg57Gln), rs868834988, ClinGen CA305909544, NCI-TCGA Cosmic COSV5000, cosmic curated COSV50000, REVEL 0.13, CADD 2.80, Uncertain significance, not specified
- R57W (p.Arg57Trp), ESP rs371607139, ExAC rs371607139, TOPMed rs371607139, gnomAD rs371607139, REVEL 0.22, CADD 8.22
- R57P (p.Arg57Pro), rs759562238, gnomAD 19-15879357-C-G, CADD 0.93, SIFT 0.29
- N58H (p.Asn58His), TOPMed rs1158387957, gnomAD rs1158387957, REVEL 0.37, CADD 12.80
- N58I (p.Asn58Ile), ExAC rs778332695, TOPMed rs778332695, gnomAD rs778332695, REVEL 0.42, CADD 21.00
- W59* (p.Trp59Ter), ExAC rs753256315, gnomAD rs753256315, CADD 39.00
- W59S (p.Trp59Ser), ExAC rs753256315, gnomAD rs753256315, REVEL 0.73, CADD 24.20
- F60L (p.Phe60Leu), TOPMed rs2089454172, gnomAD rs2089454172, REVEL 0.31, CADD 9.67
- F60S (p.Phe60Ser), ExAC rs765175109, gnomAD rs765175109, REVEL 0.78, CADD 24.30
- W61G (p.Trp61Gly), ExAC rs759715915, gnomAD rs759715915, MetaLR 0.56, MetaSVM -0.30
- W61* (p.Trp61Ter), rs149564867, gnomAD 19-15878908-C-T, REVEL 0.10, MetaLR 0.09
- G62D (p.Gly62Asp), gnomAD 19-15879351-C-T, CADD 5.96, SIFT 0.74
- Q64* (p.Gln64Ter), ExAC rs766753855, TOPMed rs766753855, gnomAD rs766753855, CADD 34.00
- Q64E (p.Gln64Glu), ExAC rs766753855, TOPMed rs766753855, gnomAD rs766753855, REVEL 0.27, CADD 6.22
- Q64R (p.Gln64Arg), Ensembl rs1568474897, REVEL 0.26, CADD 14.10
- Q64P (p.Gln64Pro), gnomAD 19-15879354-T-G, CADD 4.57, SIFT 0.19
- G65V (p.Gly65Val), gnomAD 19-15878924-C-A, CADD 3.92, SIFT 0.01
- M66I (p.Met66Ile), gnomAD rs2089453953, REVEL 0.24, CADD 23.60
- M66K (p.Met66Lys), TOPMed rs1160682886, gnomAD rs1160682886, REVEL 0.27, CADD 16.00
- M66T (p.Met66Thr), TOPMed rs1160682886, gnomAD rs1160682886, REVEL 0.22, CADD 14.70
- M66V (p.Met66Val), ExAC rs760529834, gnomAD rs760529834, REVEL 0.22, CADD 0.49
- V67I (p.Val67Ile), TOPMed rs2089443389, gnomAD rs2089443389, REVEL 0.24, CADD 0.00
- N68I (p.Asn68Ile), ExAC rs766701098, TOPMed rs766701098, gnomAD rs766701098, SIFT 0.24
- N68K (p.Asn68Lys), TOPMed rs1568474355, gnomAD rs1568474355, REVEL 0.18, CADD 0.01
- N68S (p.Asn68Ser), ExAC rs766701098, TOPMed rs766701098, gnomAD rs766701098, REVEL 0.09, CADD 0.00
- P69H (p.Pro69His), NCI-TCGA TCGA novel, SIFT 0.04, Variant assessed as somatic; moderate impact.
- p.Thr64 Ala65insPhePheLeuAsnIleP, gnomAD 19-15878932-A-AAA, CADD 15.10
- T70I (p.Thr70Ile), rs779245682, gnomAD 19-15878933-G-A, CADD 4.64, SIFT 0.04
- E71K (p.Glu71Lys), TOPMed rs2089443323, CADD 15.30
- R75I (p.Arg75Ile), NCI-TCGA Cosmic COSV5000, SIFT 0.12, Variant assessed as somatic; moderate impact.
- R75Q (p.Arg75Gln), gnomAD 19-15878906-C-T, CADD 0.09, SIFT 0.62
- R75L (p.Arg75Leu), gnomAD 19-15878906-C-A, CADD 0.06, SIFT 0.26
- R75P (p.Arg75Pro), gnomAD 19-15878906-C-G, CADD 0.07, SIFT 0.45
- R75* (p.Arg75Ter), rs775460036, gnomAD 19-15878913-G-A, REVEL 0.81, MetaLR 0.82
- R75H (p.Arg75His), rs751462720, gnomAD 19-15878918-C-T, CADD 0.14, SIFT 0.41
- V76D (p.Val76Asp), gnomAD rs1181224516, REVEL 0.25, CADD 0.20
- V76F (p.Val76Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q79P (p.Gln79Pro), TOPMed rs1207108952
- A82P (p.Ala82Pro), gnomAD rs1555775221, REVEL 0.58, CADD 14.20
- A82V (p.Ala82Val), rs2089324311, gnomAD 19-15878930-G-A, CADD 7.54, SIFT 0.02
- T83I (p.Thr83Ile), gnomAD rs1292029455, CADD 5.76
- T83N (p.Thr83Asn), gnomAD rs1292029455, CADD 5.35
- Y84* (p.Tyr84Ter), TOPMed rs1053728913, gnomAD rs1053728913, CADD 34.00
- Y84F (p.Tyr84Phe), TOPMed rs2089443101, gnomAD rs2089443101, REVEL 0.29, CADD 8.75
- P85A (p.Pro85Ala), TOPMed rs1311310558, gnomAD rs1311310558, REVEL 0.28, CADD 6.51
- P85L (p.Pro85Leu), ESP rs143672834, ExAC rs143672834, TOPMed rs143672834, gnomAD rs143672834, REVEL 0.42, CADD 14.50
- P85S (p.Pro85Ser), TOPMed rs1311310558, gnomAD rs1311310558, REVEL 0.27, CADD 7.18
- Q86K (p.Gln86Lys), NCI-TCGA Cosmic COSV5000, Variant assessed as somatic; moderate impact.
- Q86R (p.Gln86Arg), NCI-TCGA Cosmic COSV5000, REVEL 0.20, CADD 7.40, Variant assessed as somatic; high impact.
- K89E (p.Lys89Glu), rs1471896721, ClinGen CA404579530, ClinVar RCV004188424, TOPMed rs1471896721, REVEL 0.38, CADD 2.62, Uncertain significance, not specified
- W91C (p.Trp91Cys), ESP rs140102489, ExAC rs140102489, TOPMed rs140102489, gnomAD rs140102489, CADD 9.34
- M92L (p.Met92Leu), ExAC rs745455806, TOPMed rs745455806, gnomAD rs745455806, REVEL 0.19, CADD 0.00, Uncertain significance
- M92V (p.Met92Val), ExAC rs745455806, TOPMed rs745455806, gnomAD rs745455806, REVEL 0.27, CADD 0.02, Uncertain significance, not specified
- G93R (p.Gly93Arg), Ensembl rs865993874, CADD 9.09
- G93G (p.Gly93Gly), rs8100960, []
- P94A (p.Pro94Ala), Ensembl rs755654821, REVEL 0.49, CADD 22.80
- P94H (p.Pro94His), NCI-TCGA TCGA novel, CADD 11.80, Variant assessed as somatic; moderate impact.
- I95V (p.Ile95Val), TOPMed rs1360205971, gnomAD rs1360205971, SIFT 0.17
- S96F (p.Ser96Phe), rs1261522986, NCI-TCGA Cosmic COSV5000, TOPMed rs1261522986, gnomAD rs1261522986, REVEL 0.22, CADD 0.01, Variant assessed as somatic; moderate impact.
- S96P (p.Ser96Pro), gnomAD rs1303987141, REVEL 0.19, CADD 0.09
- S96T (p.Ser96Thr), NCI-TCGA Cosmic COSV5000, Variant assessed as somatic; moderate impact.
- S96L (p.Ser96Leu), rs763963721, gnomAD 19-15878915-G-A, CADD 0.39, SIFT 1.00
- P97H (p.Pro97His), ExAC rs748590801, TOPMed rs748590801, gnomAD rs748590801
- P97L (p.Pro97Leu), ExAC rs748590801, TOPMed rs748590801, gnomAD rs748590801, SIFT 0.11
- P97R (p.Pro97Arg), ExAC rs748590801, TOPMed rs748590801, gnomAD rs748590801, REVEL 0.47, CADD 22.40
- P97S (p.Pro97Ser), 1000Genomes rs144455532, ESP rs144455532, ExAC rs144455532, TOPMed rs144455532, REVEL 0.40, CADD 15.70
- P97T (p.Pro97Thr), 1000Genomes rs144455532, ESP rs144455532, ExAC rs144455532, TOPMed rs144455532, REVEL 0.48, CADD 22.50
- L99F (p.Leu99Phe), ExAC rs780223239, gnomAD rs780223239, REVEL 0.32, CADD 2.02
- S100G (p.Ser100Gly), 1000Genomes rs150579280, ESP rs150579280, ExAC rs150579280, TOPMed rs150579280, REVEL 0.18, CADD 1.23
- S100I (p.Ser100Ile), ExAC rs750569610, TOPMed rs750569610, gnomAD rs750569610, REVEL 0.20, CADD 0.01
- S100N (p.Ser100Asn), ExAC rs750569610, TOPMed rs750569610, gnomAD rs750569610, REVEL 0.10, CADD 0.00
- S100R (p.Ser100Arg), 1000Genomes rs150579280, ESP rs150579280, ExAC rs150579280, TOPMed rs150579280, REVEL 0.21, CADD 1.06
- L101F (p.Leu101Phe), TOPMed rs1317571713, gnomAD rs1317571713, REVEL 0.30, CADD 9.30
- H103P (p.His103Pro), Ensembl rs1599357730, SIFT 0.00
- H103Q (p.His103Gln), ExAC rs756996179, TOPMed rs756996179, gnomAD rs756996179, REVEL 0.82, CADD 22.50
- P104L (p.Pro104Leu), TOPMed rs2089442562, gnomAD rs2089442562, CADD 8.83
- P104T (p.Pro104Thr), Ensembl rs574432005, CADD 7.26
- D105N (p.Asp105Asn), ESP rs372270252, ExAC rs372270252, TOPMed rs372270252, gnomAD rs372270252, REVEL 0.34, CADD 7.14, Uncertain significance
- D105Y (p.Asp105Tyr), rs372270252, ClinGen CA9274092, ClinVar RCV004212206, ESP rs372270252, REVEL 0.70, CADD 17.50, Uncertain significance, not specified
- I106V (p.Ile106Val), TOPMed rs1260536761, gnomAD rs1260536761, REVEL 0.15, CADD 0.74
- I107L (p.Ile107Leu), NCI-TCGA TCGA novel, CADD 5.52, Variant assessed as somatic; moderate impact.
- R108Q (p.Arg108Gln), 1000Genomes rs148396222, ESP rs148396222, TOPMed rs148396222, gnomAD rs148396222, REVEL 0.18, CADD 4.95
- R108W (p.Arg108Trp), 1000Genomes rs114396708, ESP rs114396708, ExAC rs114396708, TOPMed rs114396708, REVEL 0.42, CADD 16.90
- S109F (p.Ser109Phe), ESP rs372003289, ExAC rs372003289, TOPMed rs372003289, gnomAD rs372003289, REVEL 0.29, CADD 9.86
- S109P (p.Ser109Pro), ExAC rs752647748, gnomAD rs752647748, REVEL 0.22, CADD 2.21
- V110D (p.Val110Asp), Ensembl rs2089442343, SIFT 0.00
- I111M (p.Ile111Met), TOPMed rs2089442315, gnomAD rs2089442315, REVEL 0.24, CADD 14.60
- N112K (p.Asn112Lys), 1000Genomes rs8110714, ESP rs8110714, ExAC rs8110714, TOPMed rs8110714, Benign
- N112Y (p.Asn112Tyr), NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
- N112N (p.Asn112Asn), rs8110714, []
- A113T (p.Ala113Thr), rs776120662, NCI-TCGA Cosmic COSV5000, ExAC rs776120662, gnomAD rs776120662, CADD 14.90, Variant assessed as somatic; moderate impact.
- A113V (p.Ala113Val), ExAC rs770671280, gnomAD rs770671280, CADD 16.80
- S114L (p.Ser114Leu), NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
Public CYP4F2 analysis runs
- CYP4F2 analysis run — CYP4F2 (962 variants) — completed 2026-08-18