SOX2 (Transcription factor SOX-2) variants and mutations
SOX2 (also known as Transcription factor SOX-2) is a human protein-coding gene encoding a transcription factor SOX-2 protein. It maintains neural and embryonic progenitor identity and directs development of the eye, forebrain, pituitary, and other organs. Haploinsufficiency causes SOX2 disorder, frequently with anophthalmia or microphthalmia and variable neurodevelopmental, endocrine, and genital abnormalities. This analysis covers 1,217 SOX2 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia - esophageal atresia, and neurodegenerative disease. Example SOX2 variants include Y2D, Y2N, and Y2H.
Variant analysis overview
- Gene: SOX2
- Protein: Transcription factor SOX-2
- UniProt accession: P48431
- Organism: Homo sapiens
- Variants analyzed: 1217
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 862 unspecified-consequence records; 10 in-frame deletions; 144 missense variants; 190 synonymous variants; 7 frameshift variants; 2 in-frame insertions; 1 stop-gained variants; 1 substitution
- Prediction scores: 882 variants have prediction scores (72% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia - esophageal atresia, neurodegenerative disease, Jackson-Weiss syndrome, risk-taking behaviour, hereditary disease, microphthalmia, Septo-optic dysplasia, Anophthalmia, attention deficit-hyperactivity disorder, cataract, alcohol drinking.
Protein structure and variant hotspots
- Protein features: 3 post-translational modification sites.
- PTM context: 6 variants overlap post-translational modification sites.
- Experimental data: 68 protein positions have experimental scores. Source: SOX2 High mobility group box domain domainome 1.0.
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 SOX2 variants
Examples include Y2D, Y2N, Y2H, Y2Y, N3K, p.Asn3del, M4I, M4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- Y2D (p.Tyr2Asp), Ensembl rs2108521270
- Y2N (p.Tyr2Asn), Ensembl rs2108521270, MetaLR 0.95, MetaSVM 1.10
- Y2H (p.Tyr2His), gnomAD 3-181712364-T-C, REVEL 0.81, MetaLR 0.95
- Y2Y (p.Tyr2Tyr), rs1204543187, gnomAD 3-181712366-C-T, CADD 12.40
- N3K (p.Asn3Lys), TOPMed rs1369435217, REVEL 0.53, MetaLR 0.81
- N3del (p.Asn3del), gnomAD 3-181712364-TACA-, CADD 20.80
- M4I (p.Met4Ile), NCI-TCGA TCGA novel, REVEL 0.66, MetaLR 0.85, Variant assessed as somatic; moderate impact.
- M4K (p.Met4Lys), Ensembl rs2108521280, MetaLR 0.86, MetaSVM 0.71
- M4V (p.Met4Val), gnomAD 3-181712370-A-G, REVEL 0.61, MetaLR 0.86
- M4L (p.Met4Leu), gnomAD 3-181712370-A-C, REVEL 0.48, MetaLR 0.86
- M4R (p.Met4Arg), gnomAD 3-181712371-T-G, REVEL 0.82, MetaLR 0.87
- M4T (p.Met4Thr), gnomAD 3-181712371-T-C, REVEL 0.76, MetaLR 0.84
- M5R (p.Met5Arg), Ensembl rs1714833791, MetaLR 0.76, MetaSVM 0.19
- M5del (p.Met5del), gnomAD 3-181712369-CATG-, CADD 22.10
- M5V (p.Met5Val), gnomAD 3-181712373-A-G, REVEL 0.49, MetaLR 0.85
- M5L (p.Met5Leu), gnomAD 3-181712373-A-T, REVEL 0.38, MetaLR 0.76
- M5T (p.Met5Thr), gnomAD 3-181712374-T-C, REVEL 0.65, MetaLR 0.86
- M5I (p.Met5Ile), gnomAD 3-181712375-G-A, REVEL 0.58, MetaLR 0.87
- E6* (p.Glu6Ter), rs1273721978, ClinGen CA355472948, ClinVar RCV001267865, gnomAD rs1273721978, CADD 37.00, Pathogenic
- E6D (p.Glu6Asp), Ensembl rs2108521290, REVEL 0.49, MetaLR 0.86
- E6G (p.Glu6Gly), Ensembl rs2108521289, REVEL 0.78, MetaLR 0.92, Uncertain significance, Inborn genetic diseases
- E6Q (p.Glu6Gln), gnomAD rs1273721978, REVEL 0.70, MetaLR 0.93, Pathogenic
- E6K (p.Glu6Lys), gnomAD 3-181712376-G-A, REVEL 0.82, MetaLR 0.91
- E6V (p.Glu6Val), gnomAD 3-181712377-A-T, REVEL 0.80, MetaLR 0.93
- T7A (p.Thr7Ala), Ensembl rs2108521292
- T7M (p.Thr7Met), rs1714834018, ClinGen CA355472959, ClinVar RCV004693593, ClinVar RCV005420280, REVEL 0.65, MetaLR 0.93, Uncertain significance, Inborn genetic diseases; not provided; Congenital aniridia
- T7R (p.Thr7Arg), TOPMed rs1714834018, MetaLR 0.93, MetaSVM 1.05, Uncertain significance
- T7K (p.Thr7Lys), gnomAD 3-181712380-C-A, REVEL 0.64, MetaLR 0.93
- T7T (p.Thr7Thr), gnomAD 3-181712381-G-T, CADD 14.30
- E8* (p.Glu8Ter), rs1208628241, ClinGen CA355472961, ClinVar RCV001269466, gnomAD rs1208628241, AlphaMissense 0.66, MetaLR 0.81, Pathogenic
- E8G (p.Glu8Gly), Ensembl rs2108521305
- E8Q (p.Glu8Gln), gnomAD rs1208628241, MetaLR 0.81, MetaSVM 0.50, Likely pathogenic
- E8D (p.Glu8Asp), gnomAD 3-181712384-G-T, REVEL 0.34, MetaLR 0.64
- L9V (p.Leu9Val), Ensembl rs2108521310, MetaLR 0.85, MetaSVM 0.83
- L9M (p.Leu9Met), gnomAD 3-181712385-C-A, REVEL 0.44, MetaLR 0.91
- L9P (p.Leu9Pro), gnomAD 3-181712386-T-C, REVEL 0.75, MetaLR 0.92
- L9L (p.Leu9Leu), gnomAD 3-181712387-G-T, CADD 11.00
- K10E (p.Lys10Glu), Ensembl rs2108521315
- K10M (p.Lys10Met), Ensembl rs2108521317
- K10N (p.Lys10Asn), Ensembl rs1714834403, MetaLR 0.91, MetaSVM 0.94
- P11L (p.Pro11Leu), rs1237319490, NCI-TCGA Cosmic COSV5762, TOPMed rs1237319490, gnomAD rs1237319490, REVEL 0.58, MetaLR 0.75, Variant assessed as somatic; moderate impact.
- P11S (p.Pro11Ser), NCI-TCGA TCGA novel, Ensembl rs2108521323, MetaLR 0.77, MetaSVM 0.40, Variant assessed as somatic; moderate impact.
- P11Q (p.Pro11Gln), gnomAD 3-181712392-C-A, REVEL 0.50, MetaLR 0.79
- P11P (p.Pro11Pro), rs771068335, gnomAD 3-181712393-G-A, CADD 15.50
- P12L (p.Pro12Leu), gnomAD rs1386727504, REVEL 0.74, MetaLR 0.91
- P12Q (p.Pro12Gln), gnomAD rs1386727504
- P12R (p.Pro12Arg), gnomAD rs1386727504, REVEL 0.76, MetaLR 0.91
- P12S (p.Pro12Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P12T (p.Pro12Thr), gnomAD rs1185773638, MetaLR 0.92, MetaSVM 1.03
- P12P (p.Pro12Pro), gnomAD 3-181712396-G-A, CADD 15.50
- G13D (p.Gly13Asp), Ensembl rs1714835287, REVEL 0.31, MetaLR 0.78
- G13R (p.Gly13Arg), Ensembl rs1714835180, REVEL 0.33, MetaLR 0.80
- G13S (p.Gly13Ser), NCI-TCGA TCGA novel, MetaLR 0.79, MetaSVM 0.54, Variant assessed as somatic; moderate impact.
- G13V (p.Gly13Val), Ensembl rs1714835287, REVEL 0.36, MetaLR 0.73
- p.Gly13 Pro14del, gnomAD 3-181712393-GCCGG, CADD 22.10
- G13C (p.Gly13Cys), gnomAD 3-181712397-G-T, REVEL 0.54, MetaLR 0.79
- G13A (p.Gly13Ala), gnomAD 3-181712398-G-C, REVEL 0.35, MetaLR 0.62
- G13G (p.Gly13Gly), rs760642461, gnomAD 3-181712399-C-T, CADD 15.60
- P14L (p.Pro14Leu), 1000Genomes rs530339252, ExAC rs530339252, gnomAD rs530339252, REVEL 0.61, MetaLR 0.81
- P14S (p.Pro14Ser), Ensembl rs1380376438, REVEL 0.41, MetaLR 0.81
- P14T (p.Pro14Thr), gnomAD 3-181712400-C-A, REVEL 0.51, MetaLR 0.80
- P14P (p.Pro14Pro), rs1411645794, gnomAD 3-181712402-G-A, CADD 15.00
- Q15K (p.Gln15Lys), gnomAD 3-181712403-C-A, REVEL 0.34, MetaLR 0.84
- Q15L (p.Gln15Leu), gnomAD 3-181712404-A-T, REVEL 0.46, MetaLR 0.82
- Q15R (p.Gln15Arg), gnomAD 3-181712404-A-G, REVEL 0.34, MetaLR 0.85
- Q15H (p.Gln15His), gnomAD 3-181712405-G-C, REVEL 0.43, MetaLR 0.91
- Q15Q (p.Gln15Gln), rs776333710, gnomAD 3-181712405-G-A, CADD 13.90
- Q16* (p.Gln16Ter), Ensembl rs2108521376
- Q16L (p.Gln16Leu), gnomAD 3-181712407-A-T, REVEL 0.30, MetaLR 0.82
- Q16P (p.Gln16Pro), gnomAD 3-181712407-A-C, REVEL 0.29, MetaLR 0.74
- Q16H (p.Gln16His), gnomAD 3-181712408-A-T, REVEL 0.32, MetaLR 0.78
- T17S (p.Thr17Ser), Ensembl rs2108521380, MetaLR 0.72, MetaSVM -0.11
- T17N (p.Thr17Asn), gnomAD 3-181712410-C-A, REVEL 0.22, MetaLR 0.64
- T17T (p.Thr17Thr), gnomAD 3-181712411-T-A, CADD 15.00
- S18* (p.Ser18Ter), rs750091101, ClinGen CA2717231, ClinVar RCV001061085, ExAC rs750091101, CADD 36.00, Pathogenic
- S18K (p.Ser18Lys), rs2473716820, ClinGen CA2580069106, ClinVar RCV002590076, ClinVar RCV003228092, Conflicting interpretations, not provided; Anophthalmia/microphthalmia-esophageal atresia syndrome
- S18T (p.Ser18Thr), ExAC rs764859792, TOPMed rs764859792, gnomAD rs764859792, REVEL 0.24, MetaLR 0.66
- S18W (p.Ser18Trp), ExAC rs750091101, TOPMed rs750091101, gnomAD rs750091101, Pathogenic
- S18L (p.Ser18Leu), gnomAD 3-181712413-C-T, REVEL 0.31, MetaLR 0.82
- S18S (p.Ser18Ser), rs757913217, gnomAD 3-181712414-G-C, CADD 14.70
- G19E (p.Gly19Glu), gnomAD rs1227940600, REVEL 0.51, MetaLR 0.82, Uncertain significance, Inborn genetic diseases
- G19R (p.Gly19Arg), ExAC rs752089700, gnomAD rs752089700, REVEL 0.34, MetaLR 0.80, Uncertain significance, Anophthalmia/microphthalmia-esophageal atresia syndrome
- G19V (p.Gly19Val), rs1227940600, ClinGen CA355473034, ClinVar RCV002764399, gnomAD rs1227940600, REVEL 0.51, MetaLR 0.86, Uncertain significance, not provided
- G19W (p.Gly19Trp), gnomAD 3-181712415-G-T, REVEL 0.61, MetaLR 0.89
- G19G (p.Gly19Gly), rs1270908140, gnomAD 3-181712417-G-A, CADD 13.80
- G20D (p.Gly20Asp), Ensembl rs2108521416, REVEL 0.57, MetaLR 0.90
- G20A (p.Gly20Ala), rs398122803, gnomAD 3-181712413-CG-C, CADD 26.30
- G20S (p.Gly20Ser), gnomAD 3-181712418-G-A, REVEL 0.51, MetaLR 0.88
- G20V (p.Gly20Val), gnomAD 3-181712419-G-T, REVEL 0.55, MetaLR 0.90
- G20G (p.Gly20Gly), gnomAD 3-181712420-C-T, CADD 14.70
- G21A (p.Gly21Ala), ExAC rs755517456, gnomAD rs755517456, REVEL 0.29, MetaLR 0.77
- G21D (p.Gly21Asp), ExAC rs755517456, gnomAD rs755517456
- G21S (p.Gly21Ser), TOPMed rs1714837875, MetaLR 0.75, MetaSVM 0.26
- G21V (p.Gly21Val), ExAC rs755517456, gnomAD rs755517456, REVEL 0.34, MetaLR 0.78
- G21R (p.Gly21Arg), rs398122803, gnomAD 3-181712413-C-CG, CADD 29.90
- G21C (p.Gly21Cys), gnomAD 3-181712421-G-T, REVEL 0.42, MetaLR 0.77
- G21G (p.Gly21Gly), rs781707393, gnomAD 3-181712423-C-T, CADD 15.30
- G22D (p.Gly22Asp), Ensembl rs2108521437, REVEL 0.28, MetaLR 0.74
- G22S (p.Gly22Ser), ExAC rs727504169, TOPMed rs727504169, gnomAD rs727504169, REVEL 0.26, MetaLR 0.68, Likely benign
- G22G (p.Gly22Gly), rs2108521440, gnomAD 3-181712426-C-T, CADD 14.00
- G23D (p.Gly23Asp), ExAC rs756496221, TOPMed rs756496221, gnomAD rs756496221, REVEL 0.31, MetaLR 0.80, Uncertain significance
- G23R (p.Gly23Arg), rs1560264167, ClinVar RCV004577418, ClinVar RCV004787134, Pathogenic
- G23S (p.Gly23Ser), TOPMed rs1205978762, gnomAD rs1205978762, REVEL 0.30, MetaLR 0.72
- G23V (p.Gly23Val), rs756496221, ClinGen CA2717236, ClinVar RCV003516480, ClinVar RCV004963721, REVEL 0.39, MetaLR 0.79, Uncertain significance, Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn genetic diseases
- p.Gly23dup, rs1560264163, gnomAD 3-181712417-G-GGG, CADD 21.20
- G23del (p.Gly23del), rs1560264163, gnomAD 3-181712417-GGGC-, CADD 20.80
- N24H (p.Asn24His), rs777862989, ExAC rs777862989, gnomAD rs777862989, REVEL 0.29, MetaLR 0.71, Variant assessed as somatic; moderate impact.
- N24T (p.Asn24Thr), Ensembl rs2108521451, MetaLR 0.66, MetaSVM -0.23
- N24R (p.Asn24Arg), rs398123693, gnomAD 3-181712418-GGCGG, CADD 32.00
- p.Asn24 Gly31del, gnomAD 3-181712425-GCGGC, CADD 20.80
- N24K (p.Asn24Lys), gnomAD 3-181712432-C-A, REVEL 0.31, MetaLR 0.73
- S25F (p.Ser25Phe), gnomAD rs1192006598
- S25P (p.Ser25Pro), Ensembl rs2108521454
- S25T (p.Ser25Thr), Ensembl rs2108521454
- p.Ser25 Asn33del, gnomAD 3-181712422-GCGGC, CADD 21.10
- S25S (p.Ser25Ser), gnomAD 3-181712435-C-A, CADD 7.42
- T26A (p.Thr26Ala), rs749464287, ClinGen CA2717238, ClinVar RCV000734263, ClinVar RCV002535374, REVEL 0.34, MetaLR 0.55, Uncertain significance, Anophthalmia/microphthalmia-esophageal atresia syndrome; not provided
- T26I (p.Thr26Ile), 1000Genomes rs771158394, ExAC rs771158394, TOPMed rs771158394, gnomAD rs771158394, REVEL 0.31, MetaLR 0.71, Likely benign, Inborn genetic diseases
- T26P (p.Thr26Pro), ExAC rs749464287, TOPMed rs749464287, gnomAD rs749464287, Uncertain significance
- T26T (p.Thr26Thr), rs1037867266, gnomAD 3-181712438-C-T, CADD 2.72
- A27P (p.Ala27Pro), Ensembl rs2108521474, MetaLR 0.66, MetaSVM 0.10
- A27T (p.Ala27Thr), Ensembl rs2108521474, REVEL 0.31, MetaLR 0.63
- A27A (p.Ala27Ala), gnomAD 3-181712441-G-A, CADD 13.20
- A28G (p.Ala28Gly), gnomAD rs1170252840, REVEL 0.30, MetaLR 0.58
- A28V (p.Ala28Val), gnomAD rs1170252840, MetaLR 0.68, MetaSVM 0.22
- A28S (p.Ala28Ser), gnomAD 3-181712442-G-T, REVEL 0.30, MetaLR 0.58
- A28T (p.Ala28Thr), gnomAD 3-181712442-G-A, REVEL 0.28, MetaLR 0.70
- A28A (p.Ala28Ala), rs779097787, gnomAD 3-181712444-G-A, CADD 14.60
- A29G (p.Ala29Gly), Ensembl rs2108521492
- A29R (p.Ala29Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A29T (p.Ala29Thr), rs1470195221, ClinGen CA355473085, ClinVar RCV002716434, gnomAD rs1470195221, REVEL 0.27, MetaLR 0.69, Uncertain significance, Anophthalmia/microphthalmia-esophageal atresia syndrome
- A29V (p.Ala29Val), Ensembl rs2108521492
- A30D (p.Ala30Asp), Ensembl rs2108521503
- A30G (p.Ala30Gly), Ensembl rs2108521503
- A30P (p.Ala30Pro), TOPMed rs914783082
- A30T (p.Ala30Thr), TOPMed rs914783082
- A30V (p.Ala30Val), Ensembl rs2108521503, MetaLR 0.76, MetaSVM 0.12
- p.Ala30dup, gnomAD 3-181712438-C-CGC, CADD 16.80
- A30A (p.Ala30Ala), rs745913995, gnomAD 3-181712450-C-G, CADD 13.70
- G31A (p.Gly31Ala), ExAC rs768528466, TOPMed rs768528466, gnomAD rs768528466
- G31R (p.Gly31Arg), TOPMed rs1386163785, gnomAD rs1386163785, REVEL 0.56, MetaLR 0.79
- G31S (p.Gly31Ser), TOPMed rs1386163785, gnomAD rs1386163785, REVEL 0.43, MetaLR 0.75, Uncertain significance, not provided
- G31V (p.Gly31Val), ExAC rs768528466, TOPMed rs768528466, gnomAD rs768528466, REVEL 0.54, MetaLR 0.80, Uncertain significance, not provided; Anophthalmia/microphthalmia-esophageal atresia syndrome
- G31G (p.Gly31Gly), rs929379852, gnomAD 3-181712453-C-T, CADD 14.30
- G32R (p.Gly32Arg), Ensembl rs2108521522
- G32S (p.Gly32Ser), Ensembl rs2108521522, MetaLR 0.71, MetaSVM 0.29
- N33H (p.Asn33His), TOPMed rs1360786606, REVEL 0.45, MetaLR 0.79
- N33K (p.Asn33Lys), ExAC rs776620962, TOPMed rs776620962, gnomAD rs776620962, MetaLR 0.77, MetaSVM 0.24
- N33S (p.Asn33Ser), TOPMed rs1714841038, gnomAD rs1714841038, REVEL 0.39, MetaLR 0.78
- N33I (p.Asn33Ile), gnomAD 3-181712458-A-T, REVEL 0.47, MetaLR 0.79
- N33N (p.Asn33Asn), rs776620962, gnomAD 3-181712459-C-T, CADD 14.00
- Q34* (p.Gln34Ter), rs1714841256, ClinGen CA355473116, ClinVar RCV001195766, ClinVar RCV001249255, Uncertain significance
- Q34R (p.Gln34Arg), ExAC rs761584574, MetaLR 0.65, MetaSVM -0.09
- K35* (p.Lys35Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K35N (p.Lys35Asn), ExAC rs769570510, gnomAD rs769570510, REVEL 0.33, MetaLR 0.67
- K35R (p.Lys35Arg), Ensembl rs1714841436
- K35Q (p.Lys35Gln), gnomAD 3-181712463-A-C, REVEL 0.45, MetaLR 0.74
- N36K (p.Asn36Lys), 1000Genomes rs548425389, ExAC rs548425389, gnomAD rs548425389, REVEL 0.43, MetaLR 0.69
- N36N (p.Asn36Asn), rs548425389, gnomAD 3-181712468-C-T, CADD 14.40
- S37G (p.Ser37Gly), ExAC rs762549192, gnomAD rs762549192, REVEL 0.43, MetaLR 0.67
- S37N (p.Ser37Asn), Ensembl rs2108521554, REVEL 0.42, MetaLR 0.60
- S37R (p.Ser37Arg), Ensembl rs2108521555, Pathogenic
- S37S (p.Ser37Ser), rs2108521555, gnomAD 3-181712471-C-T, CADD 13.10
- P38L (p.Pro38Leu), rs2108521561, ClinGen CA355473149, ClinVar RCV002042282, Ensembl rs2108521561, REVEL 0.42, MetaLR 0.74, Uncertain significance, Anophthalmia/microphthalmia-esophageal atresia syndrome
- P38Q (p.Pro38Gln), Ensembl rs2108521561, MetaLR 0.60, MetaSVM -0.18, Uncertain significance
- P38R (p.Pro38Arg), gnomAD 3-181712473-C-G, REVEL 0.43, MetaLR 0.74
- P38P (p.Pro38Pro), gnomAD 3-181712474-G-T, CADD 13.30
- R40A (p.Arg40Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R40C (p.Arg40Cys), NCI-TCGA Cosmic COSV1003, Ensembl rs2108521566, Variant assessed as somatic; moderate impact.
- R40H (p.Arg40His), Ensembl rs2108521570
- R40P (p.Arg40Pro), Ensembl rs2108521570, MetaLR 0.88, MetaSVM 0.97
- R40R (p.Arg40Arg), rs1324894998, gnomAD 3-181712480-C-G, CADD 13.00
- V41A (p.Val41Ala), gnomAD rs1266692268, REVEL 0.76, MetaLR 0.95
- V41D (p.Val41Asp), gnomAD rs1266692268
- V41G (p.Val41Gly), gnomAD rs1266692268, MetaLR 0.96, MetaSVM 1.07
- V41L (p.Val41Leu), gnomAD rs1225885626, REVEL 0.78, MetaLR 0.95
- V41I (p.Val41Ile), gnomAD 3-181712481-G-A, REVEL 0.48, MetaLR 0.76
- R43G (p.Arg43Gly), ExAC rs765982831, gnomAD rs765982831, Likely pathogenic
- R43W (p.Arg43Trp), rs765982831, ClinGen CA355473179, ClinVar RCV000520284, ExAC rs765982831, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, not provided
- R43R (p.Arg43Arg), rs765982831, gnomAD 3-181712487-C-A, AlphaMissense 1.00, MetaLR 0.99
Public SOX2 analysis runs
- SOX2 analysis run — SOX2 (1,217 variants) — completed 2026-08-19