EPAS1 (Q99814) variants and mutations
EPAS1 (also known as Q99814) is a human protein-coding gene encoding an endothelial PAS domain-containing protein 1 protein. When stabilized by hypoxia, it activates hypoxia-responsive genes controlling erythropoiesis, angiogenesis, iron metabolism, and cellular adaptation to low oxygen. Activating variants can cause familial erythrocytosis, while somatic dysregulation is central to clear-cell renal carcinoma and some paragangliomas. This analysis covers 1,846 EPAS1 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes erythrocytosis, familial, 4, renal cell carcinoma, and clear cell renal carcinoma. Example EPAS1 variants include T2I, T2R, and T2K.
Variant analysis overview
- Gene: EPAS1
- Protein: Q99814
- UniProt accession: Q99814
- Organism: Homo sapiens
- Variants analyzed: 1846
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,770 unspecified-consequence records; 27 missense variants; 37 synonymous variants; 5 in-frame deletions; 2 splice-region variants; 1 stop-gained variants; 1 frameshift variants; 3 substitution
- Prediction scores: 1,342 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: erythrocytosis, familial, 4, renal cell carcinoma, clear cell renal carcinoma, autosomal dominant secondary polycythemia, von Hippel-Lindau disease, paraganglioma, neoplasm, hemangioblastoma, atrial fibrillation, pancreatic neuroendocrine tumor, Abnormality of the skeletal system, renal carcinoma.
Protein structure and variant hotspots
- Protein features: 4 domains; 4 post-translational modification sites.
- Structural context: 455 variants have structural context.
- PTM context: 8 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, MaveDB, LitVar.
Notable EPAS1 variants
Examples include T2I, T2R, T2K, T2T, A3G, A3P, A3T, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- T2I (p.Thr2Ile), Ensembl rs2104831352, REVEL 0.15, MetaLR 0.16
- T2R (p.Thr2Arg), Ensembl rs2104831352, MetaLR 0.14, MetaSVM -0.96
- T2K (p.Thr2Lys), gnomAD 2-46297916-C-A, REVEL 0.17, CADD 27.50
- T2T (p.Thr2Thr), rs1027294803, gnomAD 2-46297917-A-C, CADD 15.70
- A3G (p.Ala3Gly), ExAC rs765544757, TOPMed rs765544757, gnomAD rs765544757, REVEL 0.08, MetaLR 0.13
- A3P (p.Ala3Pro), ExAC rs759895556, TOPMed rs759895556, gnomAD rs759895556, REVEL 0.16, MetaLR 0.16, Likely benign
- A3T (p.Ala3Thr), rs759895556, ClinGen CA1644432, ClinVar RCV002419170, ExAC rs759895556, REVEL 0.12, MetaLR 0.12, Likely benign, Inborn genetic diseases
- A3V (p.Ala3Val), ExAC rs765544757, TOPMed rs765544757, gnomAD rs765544757, REVEL 0.12, MetaLR 0.14
- A3S (p.Ala3Ser), gnomAD 2-46297918-G-T, REVEL 0.08, CADD 25.10
- A3D (p.Ala3Asp), gnomAD 2-46297919-C-A, REVEL 0.15, CADD 29.60
- A3A (p.Ala3Ala), rs1219410135, gnomAD 2-46297920-T-C, CADD 16.60
- D4E (p.Asp4Glu), ExAC rs775997195, gnomAD rs775997195, REVEL 0.04, MetaLR 0.05
- D4G (p.Asp4Gly), TOPMed rs1383289687, MetaLR 0.09, MetaSVM -1.07
- K5R (p.Lys5Arg), rs1158312540, ClinGen CA346695246, ClinVar RCV002389888, TOPMed rs1158312540, REVEL 0.05, MetaLR 0.10, Uncertain significance, Inborn genetic diseases
- K5del (p.Lys5del), gnomAD 2-46297923-CAAG-C, CADD 22.60
- K5E (p.Lys5Glu), gnomAD 2-46297924-A-G, REVEL 0.07, CADD 26.10
- K5K (p.Lys5Lys), rs763563822, gnomAD 2-46297926-G-A, CADD 14.70
- E6K (p.Glu6Lys), rs1558578534, ClinGen CA346695250, ClinVar RCV004510895, TOPMed rs1558578534, REVEL 0.12, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- E6Q (p.Glu6Gln), TOPMed rs1558578534, MetaLR 0.13, MetaSVM -1.00, Uncertain significance
- E6del (p.Glu6del), gnomAD 2-46297924-AAGG-A, CADD 22.70
- K7R (p.Lys7Arg), rs1191268483, NCI-TCGA Cosmic COSV5538, TOPMed rs1191268483, gnomAD rs1191268483, REVEL 0.08, MetaLR 0.13, Uncertain significance, not provided
- K7K (p.Lys7Lys), rs1167162271, gnomAD 2-46297932-G-A, CADD 14.60
- K7N (p.Lys7Asn), gnomAD 2-46297932-G-C, REVEL 0.15, CADD 24.70
- K8R (p.Lys8Arg), TOPMed rs1242120796, gnomAD rs1242120796, REVEL 0.15, MetaLR 0.12
- K8del (p.Lys8del), rs1430521878, gnomAD 2-46297927-GAGA-G, CADD 22.70
- K8E (p.Lys8Glu), gnomAD 2-46297933-A-G, REVEL 0.13, CADD 32.00
- K8K (p.Lys8Lys), rs1219658245, gnomAD 2-46297935-A-G, CADD 18.70
- R9G (p.Arg9Gly), Ensembl rs2104831386, MetaLR 0.15, MetaSVM -0.87
- R9K (p.Arg9Lys), gnomAD 2-46297937-G-A, REVEL 0.08, CADD 33.00
- R9S (p.Arg9Ser), gnomAD 2-46346873-G-T, REVEL 0.15, CADD 34.00
- R9R (p.Arg9Arg), rs751410995, gnomAD 2-46346873-G-A, CADD 22.30
- S10C (p.Ser10Cys), rs2546439730, ClinGen CA346696748, ClinVar RCV004510972, REVEL 0.10, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- S10R (p.Ser10Arg), NCI-TCGA TCGA novel, MetaLR 0.03, MetaSVM -1.02, Variant assessed as somatic; high impact.
- S10N (p.Ser10Asn), gnomAD 2-46346875-G-A, REVEL 0.02, CADD 19.60
- S11N (p.Ser11Asn), rs536627622, ClinGen CA1644466, ClinVar RCV002454684, 1000Genomes rs536627622, REVEL 0.06, MetaLR 0.05, Uncertain significance, Inborn genetic diseases
- S12* (p.Ser12Ter), ESP rs376889179, ExAC rs376889179, TOPMed rs376889179, gnomAD rs376889179, Likely benign
- S12L (p.Ser12Leu), rs376889179, ClinGen CA1644467, ClinVar RCV003173356, ClinVar RCV005101209, REVEL 0.11, MetaLR 0.05, Likely benign, not provided; Inborn genetic diseases
- S12W (p.Ser12Trp), ESP rs376889179, ExAC rs376889179, TOPMed rs376889179, gnomAD rs376889179, Uncertain significance, Inborn genetic diseases
- S12S (p.Ser12Ser), rs745916461, gnomAD 2-46346882-G-A, CADD 1.32
- E13Q (p.Glu13Gln), NCI-TCGA Cosmic COSV5538, MetaLR 0.17, MetaSVM -0.75, Variant assessed as somatic; moderate impact.
- E13E (p.Glu13Glu), rs1425406524, gnomAD 2-46346885-G-A, CADD 8.71
- R14K (p.Arg14Lys), rs73926269, ClinGen CA1644469, ClinVar RCV001141086, ClinVar RCV002327408, REVEL 0.10, MetaLR 0.03, Conflicting interpretations, Inborn genetic diseases; not provided; Erythrocytosis, familial, 4
- R14S (p.Arg14Ser), rs2546439756, ClinGen CA346696803, ClinVar RCV004510976, Uncertain significance, Inborn genetic diseases
- R14T (p.Arg14Thr), gnomAD 2-46346887-G-C, REVEL 0.20, CADD 24.00
- R14R (p.Arg14Arg), gnomAD 2-46346888-G-A, CADD 10.50
- K16* (p.Lys16Ter), Ensembl rs1558596469, CADD 42.00
- K16T (p.Lys16Thr), gnomAD 2-46346893-A-C, REVEL 0.44, CADD 27.40
- E17D (p.Glu17Asp), rs1171890370, TOPMed rs1171890370, gnomAD rs1171890370, ClinGen CA346696845, REVEL 0.23, MetaLR 0.17, Uncertain significance, Inborn genetic diseases
- E17del (p.Glu17del), rs1271482137, gnomAD 2-46346892-AAGG-A, CADD 21.20
- K18E (p.Lys18Glu), NCI-TCGA Cosmic COSV5538, MetaLR 0.11, MetaSVM -0.76, Variant assessed as somatic; moderate impact.
- K18K (p.Lys18Lys), rs1401881272, gnomAD 2-46346900-G-A, CADD 9.76
- S19A (p.Ser19Ala), Ensembl rs2103616115
- S19C (p.Ser19Cys), Ensembl rs2103616118
- S19Y (p.Ser19Tyr), rs2103616118, ClinGen CA346696866, ClinVar RCV002347547, AlphaMissense 0.94, MetaLR 0.21, Uncertain significance, Inborn genetic diseases
- S19S (p.Ser19Ser), rs1186911662, gnomAD 2-46346903-C-T, CADD 10.80
- R20G (p.Arg20Gly), rs1394833849, ClinGen CA346696870, ClinVar RCV002355683, gnomAD rs1394833849, REVEL 0.19, MetaLR 0.14, Uncertain significance, Inborn genetic diseases
- R20Q (p.Arg20Gln), TOPMed rs1232847847, gnomAD rs1232847847, REVEL 0.29, MetaLR 0.12
- R20W (p.Arg20Trp), rs1394833849, ClinGen CA346696871, ClinVar RCV003384197, gnomAD rs1394833849, REVEL 0.16, MetaLR 0.16, Uncertain significance, Inborn genetic diseases
- R20R (p.Arg20Arg), rs2103616123, gnomAD 2-46346906-G-A, CADD 1.41
- D21E (p.Asp21Glu), ExAC rs780192014, gnomAD rs780192014, MetaLR 0.12, MetaSVM -1.04, Likely benign
- D21N (p.Asp21Asn), gnomAD 2-46346907-G-A, REVEL 0.39, CADD 24.80
- D21A (p.Asp21Ala), gnomAD 2-46346908-A-C, REVEL 0.50, CADD 27.10
- D21D (p.Asp21Asp), rs780192014, gnomAD 2-46346909-T-C, CADD 9.42
- A22T (p.Ala22Thr), Ensembl rs2103616128
- A22V (p.Ala22Val), rs1341157277, ClinGen CA346696904, NCI-TCGA Cosmic COSV9976, ClinVar RCV002364559, AlphaMissense 1.00, MetaLR 0.25, Uncertain significance, Inborn genetic diseases
- A22A (p.Ala22Ala), rs749668860, gnomAD 2-46346912-T-C, CADD 1.51
- A23E (p.Ala23Glu), gnomAD rs1320324950, Uncertain significance
- A23G (p.Ala23Gly), gnomAD rs1320324950, Uncertain significance
- A23S (p.Ala23Ser), ExAC rs768863978, gnomAD rs768863978, REVEL 0.38, MetaLR 0.22
- A23T (p.Ala23Thr), ExAC rs768863978, gnomAD rs768863978, MetaLR 0.22, MetaSVM -0.45
- A23V (p.Ala23Val), rs1320324950, NCI-TCGA Cosmic COSV5538, gnomAD rs1320324950, REVEL 0.38, MetaLR 0.25, Uncertain significance, Inborn genetic diseases
- A23A (p.Ala23Ala), rs1219457249, gnomAD 2-46346915-G-A, CADD 0.41
- R24L (p.Arg24Leu), NCI-TCGA Cosmic COSV5539, NCI-TCGA Cosmic COSV9976, Variant assessed as somatic; moderate impact.
- R24Q (p.Arg24Gln), gnomAD rs1255219046, REVEL 0.44, MetaLR 0.18
- R24W (p.Arg24Trp), Ensembl rs1684040755, MetaLR 0.18, MetaSVM -0.52
- C25* (p.Cys25Ter), Ensembl rs2103616152
- C25S (p.Cys25Ser), Ensembl rs1684040838, Uncertain significance, Inborn genetic diseases
- C25Y (p.Cys25Tyr), Ensembl rs2103616148, MetaLR 0.12, MetaSVM -1.01
- C25R (p.Cys25Arg), gnomAD 2-46346919-T-C, REVEL 0.40, CADD 27.50
- R26Q (p.Arg26Gln), rs1684040937, ClinGen CA346696944, ClinVar RCV002409905, TOPMed rs1684040937, REVEL 0.53, MetaLR 0.22, Uncertain significance, Inborn genetic diseases
- R26W (p.Arg26Trp), rs1684040885, ClinGen CA346696942, ClinVar RCV002400582, TOPMed rs1684040885, REVEL 0.65, MetaLR 0.23, Uncertain significance, Inborn genetic diseases
- R26R (p.Arg26Arg), gnomAD 2-46346922-C-A, CADD 12.30
- R27G (p.Arg27Gly), Ensembl rs2103616168, Uncertain significance
- R27Q (p.Arg27Gln), rs2103616174, ClinGen CA346696952, ClinVar RCV002419481, Ensembl rs2103616174, AlphaMissense 1.00, MetaLR 0.22, Uncertain significance, Inborn genetic diseases
- R27W (p.Arg27Trp), NCI-TCGA Cosmic COSV9976, Ensembl rs2103616168, REVEL 0.56, MetaLR 0.22, Uncertain significance, Inborn genetic diseases
- R27P (p.Arg27Pro), gnomAD 2-46346926-G-C, REVEL 0.70, CADD 32.00
- S28G (p.Ser28Gly), Ensembl rs1572631328
- S28N (p.Ser28Asn), Ensembl rs2103616176, REVEL 0.22, MetaLR 0.17
- S28R (p.Ser28Arg), rs2546439835, ClinGen CA346696970, ClinVar RCV002447703, Uncertain significance, Inborn genetic diseases
- K29E (p.Lys29Glu), rs2546439837, ClinGen CA346696973, ClinVar RCV002447972, Uncertain significance, Inborn genetic diseases
- E30E (p.Glu30Glu), rs774946498, gnomAD 2-46346936-G-A, CADD 11.00
- T31M (p.Thr31Met), rs1202116125, ClinGen CA346697005, ClinVar RCV002371526, gnomAD rs1202116125, REVEL 0.47, MetaLR 0.17, Uncertain significance, Inborn genetic diseases
- T31T (p.Thr31Thr), gnomAD 2-46346939-G-T, CADD 2.52
- E32A (p.Glu32Ala), rs1684041216, ClinGen CA346697014, ClinVar RCV002385277, Ensembl rs1684041216, AlphaMissense 0.65, MetaLR 0.14, Uncertain significance, Inborn genetic diseases
- E32G (p.Glu32Gly), Ensembl rs1684041216, MetaLR 0.18, MetaSVM -0.73, Uncertain significance
- E32V (p.Glu32Val), NCI-TCGA Cosmic COSV5538, Ensembl rs1684041216, REVEL 0.62, AlphaMissense 0.65, Uncertain significance
- E32Q (p.Glu32Gln), gnomAD 2-46346940-G-C, REVEL 0.33, CADD 28.30
- E32E (p.Glu32Glu), rs772679458, gnomAD 2-46346942-G-A, CADD 9.84
- V33A (p.Val33Ala), NCI-TCGA Cosmic COSV5539, Variant assessed as somatic; moderate impact.
- V33G (p.Val33Gly), Ensembl rs1572631337, MetaLR 0.20, MetaSVM -0.58
- V33M (p.Val33Met), ExAC rs776351419, gnomAD rs776351419, REVEL 0.34, MetaLR 0.16
- V33E (p.Val33Glu), gnomAD 2-46346944-T-A, REVEL 0.56, CADD 28.70
- V33V (p.Val33Val), rs759108016, gnomAD 2-46346945-G-A, CADD 11.10
- F34L (p.Phe34Leu), Ensembl rs1684041473, MetaLR 0.12, MetaSVM -0.97, Uncertain significance, Inborn genetic diseases
- Y35C (p.Tyr35Cys), gnomAD rs1477954904, REVEL 0.34, MetaLR 0.16, Uncertain significance
- Y35F (p.Tyr35Phe), rs1477954904, ClinGen CA346697037, ClinVar RCV002400992, gnomAD rs1477954904, REVEL 0.23, MetaLR 0.11, Uncertain significance, Inborn genetic diseases
- Y35H (p.Tyr35His), rs2546439870, ClinGen CA346697034, ClinVar RCV002389736, Uncertain significance, Inborn genetic diseases
- Y35* (p.Tyr35Ter), gnomAD 2-46346951-T-G, CADD 25.40
- Y35Y (p.Tyr35Tyr), gnomAD 2-46346951-T-C, CADD 2.21
- E36A (p.Glu36Ala), rs2103616208, ClinGen CA346697043, ClinVar RCV004510845, REVEL 0.57, MetaLR 0.18, Uncertain significance, Inborn genetic diseases
- E36D (p.Glu36Asp), ExAC rs764991841, TOPMed rs764991841, gnomAD rs764991841, REVEL 0.18, MetaLR 0.06
- E36G (p.Glu36Gly), Ensembl rs2103616208
- L37V (p.Leu37Val), Ensembl rs2103616212
- L37L (p.Leu37Leu), gnomAD 2-46346957-G-T, CADD 8.94
- A38T (p.Ala38Thr), Ensembl rs2103616219
- A38V (p.Ala38Val), NCI-TCGA Cosmic COSV9976, Ensembl rs2103616221, MetaLR 0.21, MetaSVM -0.50, Variant assessed as somatic; moderate impact.
- H39R (p.His39Arg), Ensembl rs2103616225, MetaLR 0.05, MetaSVM -1.11, Uncertain significance, Inborn genetic diseases
- E40D (p.Glu40Asp), Ensembl rs2103616229, MetaLR 0.07, MetaSVM -1.03
- L41R (p.Leu41Arg), rs2546439918, ClinGen CA346697078, ClinVar RCV002377975, Uncertain significance, Inborn genetic diseases
- L41L (p.Leu41Leu), gnomAD 2-46346969-G-A, CADD 11.00
- P42L (p.Pro42Leu), NCI-TCGA TCGA novel, Ensembl rs2103616240, REVEL 0.67, MetaLR 0.23, Variant assessed as somatic; moderate impact.
- P42S (p.Pro42Ser), Ensembl rs2103616238
- P42T (p.Pro42Thr), rs2103616238, ClinGen CA346697079, ClinVar RCV003340038, AlphaMissense 0.98, MetaLR 0.23, Uncertain significance, Inborn genetic diseases
- L43V (p.Leu43Val), rs752221582, ClinGen CA1644479, ClinVar RCV002385266, ClinVar RCV005058574, REVEL 0.27, MetaLR 0.11, Uncertain significance, not provided; Inborn genetic diseases; Erythrocytosis, familial, 4
- L43L (p.Leu43Leu), rs752221582, gnomAD 2-46346973-C-T, CADD 10.20
- P44L (p.Pro44Leu), rs2546439942, ClinGen CA346697094, ClinVar RCV002385648, ClinVar RCV003774260, REVEL 0.53, MetaLR 0.21, Uncertain significance, Inborn genetic diseases; not provided
- P44S (p.Pro44Ser), rs1464807024, NCI-TCGA Cosmic COSV9976, gnomAD rs1464807024, REVEL 0.33, MetaLR 0.16, Variant assessed as somatic; moderate impact.
- P44P (p.Pro44Pro), gnomAD 2-46346978-C-G, CADD 1.84
- H45D (p.His45Asp), rs766269051, ClinGen CA346697096, ClinVar RCV003384199, AlphaMissense 0.13, MetaLR 0.11, Uncertain significance, Inborn genetic diseases
- H45Q (p.His45Gln), NCI-TCGA TCGA novel, MetaLR 0.03, MetaSVM -1.07, Variant assessed as somatic; moderate impact.
- H45Y (p.His45Tyr), ExAC rs766269051, gnomAD rs766269051, REVEL 0.23, AlphaMissense 0.13
- H45H (p.His45His), rs1327240487, gnomAD 2-46346981-C-T, CADD 10.80
- S46C (p.Ser46Cys), rs2546439957, ClinGen CA346697104, ClinVar RCV003344537, Uncertain significance, Inborn genetic diseases
- S46I (p.Ser46Ile), gnomAD rs1376666026, MetaLR 0.11, MetaSVM -0.99, Uncertain significance
- S46N (p.Ser46Asn), rs1376666026, ClinGen CA346697105, ClinVar RCV002381133, gnomAD rs1376666026, REVEL 0.09, MetaLR 0.03, Uncertain significance, Inborn genetic diseases
- S46T (p.Ser46Thr), rs1376666026, ClinGen CA346697106, ClinVar RCV002381136, REVEL 0.06, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- S46R (p.Ser46Arg), gnomAD 2-46346982-A-C, REVEL 0.15, CADD 26.40
- S46G (p.Ser46Gly), gnomAD 2-46346982-A-G, REVEL 0.15, CADD 24.00
- S46S (p.Ser46Ser), rs1419595958, gnomAD 2-46346984-T-C, CADD 6.73
- V47G (p.Val47Gly), rs2546439975, ClinGen CA346697115, ClinVar RCV002389480, Uncertain significance, Inborn genetic diseases
- V47M (p.Val47Met), NCI-TCGA Cosmic COSV5538, REVEL 0.20, MetaLR 0.12, Variant assessed as somatic; moderate impact.
- V47E (p.Val47Glu), rs1558596524, gnomAD 2-46346982-AGT-A, CADD 27.70
- V47V (p.Val47Val), gnomAD 2-46346987-G-A, CADD 8.87
- S48G (p.Ser48Gly), gnomAD rs1296479562, REVEL 0.20, MetaLR 0.14
- S48N (p.Ser48Asn), Ensembl rs2103616274, MetaLR 0.19, MetaSVM -0.69
- S48C (p.Ser48Cys), gnomAD 2-46346988-A-T, REVEL 0.30, CADD 27.10
- S49A (p.Ser49Ala), ExAC rs763745333, gnomAD rs763745333, REVEL 0.05, MetaLR 0.04
- S49C (p.Ser49Cys), ESP rs149898744, ExAC rs149898744, TOPMed rs149898744, gnomAD rs149898744, REVEL 0.31, MetaLR 0.18, Benign
- S49P (p.Ser49Pro), ExAC rs763745333, gnomAD rs763745333, MetaLR 0.10, MetaSVM -0.95
- S49Y (p.Ser49Tyr), rs149898744, ClinGen CA1644482, ClinVar RCV000322297, ClinVar RCV002392901, REVEL 0.31, MetaLR 0.19, Conflicting interpretations, Inborn genetic diseases; not provided; Erythrocytosis, familial, 4
- S49S (p.Ser49Ser), rs1300772813, gnomAD 2-46346993-C-T, CADD 8.04
- H50L (p.His50Leu), rs2103616288, ClinGen CA346697133, ClinVar RCV004510879, REVEL 0.26, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- H50P (p.His50Pro), Ensembl rs2103616288, MetaLR 0.14, MetaSVM -0.81
- L51V (p.Leu51Val), gnomAD 2-46346997-C-G, REVEL 0.36, CADD 24.50
- L51L (p.Leu51Leu), rs1392803714, gnomAD 2-46346997-C-T, CADD 11.40
- D52E (p.Asp52Glu), Ensembl rs2103616296, MetaLR 0.19, MetaSVM -0.55
- D52H (p.Asp52His), gnomAD rs1684043147, REVEL 0.76, MetaLR 0.23, Uncertain significance, Inborn genetic diseases
- K53R (p.Lys53Arg), Ensembl rs2103616299, MetaLR 0.21, MetaSVM -0.46
- K53K (p.Lys53Lys), rs1684043191, gnomAD 2-46347005-G-A, CADD 9.02
- A54S (p.Ala54Ser), TOPMed rs1325679208, gnomAD rs1325679208, REVEL 0.37, MetaLR 0.17
- A54T (p.Ala54Thr), TOPMed rs1325679208, gnomAD rs1325679208, MetaLR 0.21, MetaSVM -0.47
- A54A (p.Ala54Ala), rs528826650, gnomAD 2-46347008-C-T, CADD 10.30
- S55F (p.Ser55Phe), NCI-TCGA Cosmic COSV5538, Variant assessed as somatic; moderate impact.
- S55S (p.Ser55Ser), gnomAD 2-46347011-C-T, CADD 12.20
- M57V (p.Met57Val), rs1684043368, ClinGen CA346697177, ClinVar RCV002414684, Ensembl rs1684043368, REVEL 0.60, MetaLR 0.11, Uncertain significance, Inborn genetic diseases
- R58* (p.Arg58Ter), NCI-TCGA Cosmic COSV5538, Ensembl rs2103616311, CADD 36.00, Variant assessed as somatic; high impact.
- R58P (p.Arg58Pro), Ensembl rs2103616316, MetaLR 0.22, MetaSVM -0.40
- R58Q (p.Arg58Gln), Ensembl rs2103616316, REVEL 0.55, MetaLR 0.22
- R58L (p.Arg58Leu), gnomAD 2-46347019-G-T, REVEL 0.66, CADD 29.70
- L59M (p.Leu59Met), TOPMed rs1329545903, gnomAD rs1329545903, REVEL 0.29, MetaLR 0.17, Likely benign
- p.Leu59 Arg65del, gnomAD 2-46347015-ATGCGA, CADD 20.40
- L59L (p.Leu59Leu), rs1329545903, gnomAD 2-46347021-C-T, CADD 9.82
- A60E (p.Ala60Glu), TOPMed rs1400888506, Uncertain significance
- A60T (p.Ala60Thr), Ensembl rs2103616329, MetaLR 0.02, MetaSVM -0.96
- A60V (p.Ala60Val), rs1400888506, ClinGen CA346697200, ClinVar RCV002407847, TOPMed rs1400888506, REVEL 0.20, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- A60S (p.Ala60Ser), gnomAD 2-46347024-G-T, REVEL 0.08, CADD 23.20
- I61V (p.Ile61Val), rs757224585, ClinGen CA1644483, ClinVar RCV003173375, ClinVar RCV006473912, REVEL 0.21, MetaLR 0.10, Likely benign, not provided; Inborn genetic diseases
- I61N (p.Ile61Asn), gnomAD 2-46347028-T-A, REVEL 0.57, CADD 27.50
- S62S (p.Ser62Ser), gnomAD 2-46347032-C-T, CADD 11.00
- F63L (p.Phe63Leu), Ensembl rs2103616339, REVEL 0.29, MetaLR 0.10
Public EPAS1 analysis runs
- EPAS1 analysis run — EPAS1 (1,846 variants) — completed 2026-08-19