PDX1 (P52945) variants and mutations
PDX1 (also known as P52945) is a human protein-coding gene encoding a pancreas/duodenum homeobox protein 1 protein. It directs pancreatic development and later maintains beta-cell identity and insulin transcription. Biallelic severe loss can cause pancreatic agenesis and neonatal diabetes, while heterozygous variants can cause maturity-onset diabetes of the young. This analysis covers 792 PDX1 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes pyruvate dehydrogenase E3-binding protein deficiency, hereditary disease, and mitochondrial disease. Example PDX1 variants include N2K, N2D, and N2N.
Variant analysis overview
- Gene: PDX1
- Protein: P52945
- UniProt accession: P52945
- Organism: Homo sapiens
- Variants analyzed: 792
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 434 unspecified-consequence records; 184 missense variants; 123 synonymous variants; 22 frameshift variants; 15 stop-gained variants; 10 in-frame deletions; 2 in-frame insertions; 1 splice-region variants; 1 substitution
- Prediction scores: 709 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: pyruvate dehydrogenase E3-binding protein deficiency, hereditary disease, mitochondrial disease, Leigh syndrome, inborn mitochondrial metabolism disorder, obsessive-compulsive disorder, ovarian dysfunction, vascular disorder, type 2 diabetes mellitus, pyruvate dehydrogenase E1-alpha deficiency, Abnormality of the skeletal system, bilirubin metabolism disease.
Protein structure and variant hotspots
- Protein features: 2 post-translational modification sites.
- PTM context: 5 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable PDX1 variants
Examples include N2K, N2D, N2N, G3A, G3R, G3S, G3V, G3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- N2K (p.Asn2Lys), 1000Genomes rs146936598, ExAC rs146936598, TOPMed rs146936598, gnomAD rs146936598, REVEL 0.64, CADD 24.40, Benign
- N2D (p.Asn2Asp), gnomAD 13-27920142-A-G, REVEL 0.60, CADD 25.90
- N2N (p.Asn2Asn), rs146936598, gnomAD 13-27920144-C-T, CADD 12.70
- G3A (p.Gly3Ala), rs1380564366, ClinGen CA387643220, ClinVar RCV000712004, ClinVar RCV002463733, REVEL 0.18, CADD 18.40, Uncertain significance, Pancreatic agenesis 1; Type 2 diabetes mellitus; Maturity-onset diabetes of the
- G3R (p.Gly3Arg), ExAC rs773555653, TOPMed rs773555653, gnomAD rs773555653, REVEL 0.13, CADD 20.40
- G3S (p.Gly3Ser), ExAC rs773555653, TOPMed rs773555653, gnomAD rs773555653, REVEL 0.12, CADD 19.10
- G3V (p.Gly3Val), TOPMed rs1380564366, gnomAD rs1380564366, REVEL 0.20, CADD 22.40, Uncertain significance
- G3C (p.Gly3Cys), gnomAD 13-27920145-G-T, REVEL 0.22, CADD 22.60
- G3G (p.Gly3Gly), gnomAD 13-27920147-C-A, CADD 14.10
- E4K (p.Glu4Lys), NCI-TCGA TCGA novel, REVEL 0.55, CADD 25.90, Variant assessed as somatic; moderate impact.
- E4D (p.Glu4Asp), gnomAD 13-27920150-G-T, REVEL 0.23, CADD 18.40
- E4E (p.Glu4Glu), gnomAD 13-27920150-G-A, CADD 11.30
- E5K (p.Glu5Lys), gnomAD rs1421091670
- E5G (p.Glu5Gly), gnomAD 13-27920148-G-GA, CADD 32.00
- E5E (p.Glu5Glu), rs1957771274, gnomAD 13-27920153-G-A, CADD 14.20
- Q6K (p.Gln6Lys), NCI-TCGA Cosmic COSV6684, REVEL 0.24, CADD 21.40, Variant assessed as somatic; moderate impact.
- Q6* (p.Gln6Ter), gnomAD 13-27920154-C-T, CADD 37.00
- Q6E (p.Gln6Glu), gnomAD 13-27920154-C-G, REVEL 0.21, CADD 20.40
- Q6R (p.Gln6Arg), gnomAD 13-27920155-A-G, REVEL 0.22, CADD 22.70
- Y7H (p.Tyr7His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y7S (p.Tyr7Ser), TOPMed rs1857771781
- Y7C (p.Tyr7Cys), gnomAD 13-27920158-A-G, REVEL 0.78, CADD 28.50
- Y7* (p.Tyr7Ter), gnomAD 13-27920159-C-A, CADD 38.00
- Y7Y (p.Tyr7Tyr), gnomAD 13-27920159-C-T, CADD 13.80
- Y8C (p.Tyr8Cys), TOPMed rs1957771331
- Y8H (p.Tyr8His), TOPMed rs1957771306, REVEL 0.77, CADD 32.00
- Y8N (p.Tyr8Asn), gnomAD 13-27920160-T-A, REVEL 0.84, CADD 32.00
- Y8* (p.Tyr8Ter), gnomAD 13-27920162-C-A, CADD 37.00
- Y8Y (p.Tyr8Tyr), gnomAD 13-27920162-C-T, CADD 13.10
- A9P (p.Ala9Pro), gnomAD rs1957771358, REVEL 0.21, CADD 23.10
- A9S (p.Ala9Ser), gnomAD 13-27920163-G-T, REVEL 0.31, CADD 23.00
- A9T (p.Ala9Thr), gnomAD 13-27920163-G-A, REVEL 0.31, CADD 23.50
- A9G (p.Ala9Gly), gnomAD 13-27920164-C-G, REVEL 0.42, CADD 23.90
- A9E (p.Ala9Glu), gnomAD 13-27920164-C-A, REVEL 0.54, CADD 25.40
- A9V (p.Ala9Val), gnomAD 13-27920164-C-T, REVEL 0.47, CADD 23.80
- A9A (p.Ala9Ala), gnomAD 13-27920165-G-C, CADD 12.90
- A10D (p.Ala10Asp), TOPMed rs1957771454
- A10P (p.Ala10Pro), TOPMed rs936474667, gnomAD rs936474667, REVEL 0.52, CADD 23.30, Uncertain significance
- A10S (p.Ala10Ser), TOPMed rs936474667, gnomAD rs936474667, REVEL 0.21, CADD 18.70, Uncertain significance
- A10T (p.Ala10Thr), rs936474667, ClinGen CA247262880, ClinVar RCV000517828, ClinVar RCV001174415, REVEL 0.13, CADD 21.20, Uncertain significance, Monogenic diabetes; Maturity-onset diabetes of the young; not provided
- A10V (p.Ala10Val), gnomAD 13-27920167-C-T, REVEL 0.41, CADD 23.40
- A10A (p.Ala10Ala), gnomAD 13-27920168-C-T, CADD 13.80
- T11M (p.Thr11Met), gnomAD rs1364035024, REVEL 0.40, CADD 24.00
- T11A (p.Thr11Ala), gnomAD 13-27920169-A-G, REVEL 0.14, CADD 17.00
- T11S (p.Thr11Ser), gnomAD 13-27920169-A-T, REVEL 0.10, CADD 16.90
- T11K (p.Thr11Lys), gnomAD 13-27920170-C-A, REVEL 0.44, CADD 23.70
- T11T (p.Thr11Thr), gnomAD 13-27920171-G-T, CADD 7.52
- Q12R (p.Gln12Arg), gnomAD rs1386559001, REVEL 0.17, CADD 21.50
- Q12* (p.Gln12Ter), gnomAD 13-27920172-C-T, CADD 38.00
- Q12K (p.Gln12Lys), gnomAD 13-27920172-C-A, REVEL 0.27, CADD 23.40
- Q12Q (p.Gln12Gln), gnomAD 13-27920174-G-A, CADD 13.00
- Q12H (p.Gln12His), gnomAD 13-27920174-G-T, REVEL 0.14, CADD 21.90
- L13I (p.Leu13Ile), gnomAD 13-27920175-C-A, REVEL 0.36, CADD 23.70
- L13P (p.Leu13Pro), gnomAD 13-27920176-T-C, REVEL 0.74, CADD 32.00
- L13L (p.Leu13Leu), gnomAD 13-27920177-T-C, CADD 8.71
- Y14H (p.Tyr14His), gnomAD 13-27920178-T-C, REVEL 0.64, CADD 32.00
- Y14C (p.Tyr14Cys), gnomAD 13-27920179-A-G, REVEL 0.75, CADD 31.00
- Y14* (p.Tyr14Ter), gnomAD 13-27920180-C-A, CADD 37.00
- Y14Y (p.Tyr14Tyr), gnomAD 13-27920180-C-T, CADD 13.40
- K15E (p.Lys15Glu), TOPMed rs1324849296, gnomAD rs1324849296, REVEL 0.65, CADD 26.00
- K15N (p.Lys15Asn), ExAC rs747304604, gnomAD rs747304604, REVEL 0.54, CADD 26.20
- K15Q (p.Lys15Gln), TOPMed rs1324849296, gnomAD rs1324849296, REVEL 0.59, CADD 28.70
- K15R (p.Lys15Arg), gnomAD 13-27920180-CA-C, CADD 31.00
- K15* (p.Lys15Ter), gnomAD 13-27920181-A-T, CADD 39.00
- K15T (p.Lys15Thr), gnomAD 13-27920182-A-C, REVEL 0.78, CADD 27.50
- K15M (p.Lys15Met), gnomAD 13-27920182-A-T, REVEL 0.77, CADD 28.50
- K15K (p.Lys15Lys), gnomAD 13-27920183-G-A, CADD 13.50
- D16E (p.Asp16Glu), gnomAD rs1957771612, REVEL 0.29, CADD 18.00
- D16V (p.Asp16Val), rs1333313782, ClinGen CA387643543, ClinVar RCV001998863, gnomAD rs1333313782, REVEL 0.68, CADD 27.60, Uncertain significance, not provided
- D16Y (p.Asp16Tyr), gnomAD 13-27920184-G-T, REVEL 0.58, CADD 29.80
- D16G (p.Asp16Gly), gnomAD 13-27920185-A-G, REVEL 0.57, CADD 27.60
- P17S (p.Pro17Ser), TOPMed rs1280526637, REVEL 0.15, CADD 12.80
- P17T (p.Pro17Thr), gnomAD 13-27920187-C-A, REVEL 0.22, CADD 15.20
- P17Q (p.Pro17Gln), gnomAD 13-27920188-C-A, REVEL 0.21, CADD 17.70
- P17P (p.Pro17Pro), gnomAD 13-27920189-A-G, CADD 6.41
- C18* (p.Cys18Ter), TOPMed rs1278981936, gnomAD rs1278981936, CADD 36.00
- C18R (p.Cys18Arg), rs137852785, ClinGen CA325635, ClinVar RCV000009412, ClinVar RCV000439286, REVEL 0.90, CADD 27.10, Uncertain significance, Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset diabetes of the
- C18W (p.Cys18Trp), TOPMed rs1278981936, gnomAD rs1278981936, REVEL 0.75, CADD 24.80
- C18M (p.Cys18Met), gnomAD 13-27920188-C-CA, CADD 23.80
- C18G (p.Cys18Gly), gnomAD 13-27920190-T-G, REVEL 0.81, CADD 24.60
- C18F (p.Cys18Phe), gnomAD 13-27920191-G-T, REVEL 0.83, CADD 27.10
- C18Y (p.Cys18Tyr), gnomAD 13-27920191-G-A, REVEL 0.74, CADD 24.60
- C18C (p.Cys18Cys), gnomAD 13-27920192-C-T, CADD 11.90
- A19E (p.Ala19Glu), gnomAD rs1354706283, REVEL 0.60, CADD 24.10
- A19P (p.Ala19Pro), gnomAD rs1291256558, REVEL 0.61, CADD 25.30
- A19T (p.Ala19Thr), gnomAD rs1291256558, REVEL 0.51, CADD 24.90
- A19S (p.Ala19Ser), gnomAD 13-27920193-G-T, REVEL 0.45, CADD 24.30
- A19V (p.Ala19Val), gnomAD 13-27920194-C-T, REVEL 0.40, CADD 19.90
- A19A (p.Ala19Ala), rs1242500017, gnomAD 13-27920195-G-C, CADD 2.03
- F20L (p.Phe20Leu), ExAC rs776516205, gnomAD rs776516205, REVEL 0.49, CADD 22.80
- F20V (p.Phe20Val), gnomAD 13-27920196-T-G, REVEL 0.62, CADD 23.80
- F20I (p.Phe20Ile), gnomAD 13-27920196-T-A, REVEL 0.50, CADD 23.80
- F20S (p.Phe20Ser), gnomAD 13-27920197-T-C, REVEL 0.60, CADD 23.70
- F20F (p.Phe20Phe), rs776516205, gnomAD 13-27920198-C-T, CADD 11.90
- Q21L (p.Gln21Leu), rs1358532247, ClinGen CA387643651, ClinVar RCV003670912, TOPMed rs1358532247, REVEL 0.77, CADD 26.00, Uncertain significance, not provided
- Q21* (p.Gln21Ter), gnomAD 13-27920199-C-T, CADD 37.00
- Q21K (p.Gln21Lys), gnomAD 13-27920199-C-A, REVEL 0.69, CADD 24.30
- Q21R (p.Gln21Arg), gnomAD 13-27920200-A-G, REVEL 0.70, CADD 25.20
- Q21H (p.Gln21His), gnomAD 13-27920201-G-T, REVEL 0.59, CADD 22.50
- R22G (p.Arg22Gly), gnomAD rs1210186252
- R22L (p.Arg22Leu), NCI-TCGA TCGA novel, REVEL 0.71, CADD 24.70, Variant assessed as somatic; moderate impact.
- R22P (p.Arg22Pro), gnomAD rs913578374
- R22Q (p.Arg22Gln), rs913578374, gnomAD rs913578374, REVEL 0.49, CADD 24.80, Variant assessed as somatic; moderate impact.
- R22* (p.Arg22Ter), gnomAD 13-27920202-C-T, CADD 35.00
- G23D (p.Gly23Asp), gnomAD rs1435965192, REVEL 0.31, CADD 22.70
- G23V (p.Gly23Val), gnomAD rs1435965192, REVEL 0.26, CADD 22.60
- G23C (p.Gly23Cys), gnomAD 13-27920205-G-T, REVEL 0.22, CADD 20.70
- G23S (p.Gly23Ser), gnomAD 13-27920205-G-A, REVEL 0.17, CADD 17.80
- G23A (p.Gly23Ala), gnomAD 13-27920206-G-C, REVEL 0.17, CADD 16.90
- G23G (p.Gly23Gly), rs1180499462, gnomAD 13-27920207-C-A, CADD 8.84
- P24L (p.Pro24Leu), TOPMed rs921718972, gnomAD rs921718972, REVEL 0.29, CADD 20.10
- P24R (p.Pro24Arg), TOPMed rs921718972, gnomAD rs921718972, REVEL 0.33, CADD 19.20
- P24T (p.Pro24Thr), TOPMed rs1359478898
- P24A (p.Pro24Ala), gnomAD 13-27920208-C-G, REVEL 0.30, CADD 16.20
- P24Q (p.Pro24Gln), gnomAD 13-27920209-C-A, REVEL 0.18, CADD 15.40
- P24P (p.Pro24Pro), rs1406600957, gnomAD 13-27920210-G-A, CADD 0.40
- A25E (p.Ala25Glu), Ensembl rs2137502236
- A25V (p.Ala25Val), gnomAD 13-27920212-C-T, REVEL 0.10, CADD 15.80
- A25A (p.Ala25Ala), gnomAD 13-27920213-G-T, CADD 10.30
- P26L (p.Pro26Leu), rs954397231, ClinGen CA247262898, ClinVar RCV002463991, TOPMed rs954397231, REVEL 0.20, CADD 18.70, Uncertain significance, Pancreatic hypoplasia
- P26R (p.Pro26Arg), TOPMed rs954397231, gnomAD rs954397231, REVEL 0.17, CADD 18.30, Uncertain significance
- P26Q (p.Pro26Gln), gnomAD 13-27920215-C-A, REVEL 0.16, CADD 15.60
- P26P (p.Pro26Pro), rs987574171, gnomAD 13-27920216-G-A, CADD 1.77
- E27K (p.Glu27Lys), gnomAD rs1384209067, REVEL 0.42, CADD 24.50
- E27E (p.Glu27Glu), gnomAD 13-27920219-G-A, CADD 9.67
- F28L (p.Phe28Leu), TOPMed rs1164169925, gnomAD rs1164169925, REVEL 0.32, CADD 21.60, Uncertain significance, Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset diabetes of the
- F28S (p.Phe28Ser), Ensembl rs2137502253
- F28V (p.Phe28Val), rs1457762802, ClinGen CA387643773, ClinVar RCV002463992, TOPMed rs1457762802, REVEL 0.42, CADD 24.20, Uncertain risk allele, Pancreatic hypoplasia
- F28F (p.Phe28Phe), gnomAD 13-27920222-C-T, CADD 13.00
- S29G (p.Ser29Gly), ExAC rs759692004, gnomAD rs759692004, REVEL 0.24, CADD 19.80
- S29N (p.Ser29Asn), gnomAD rs1408653205
- S29S (p.Ser29Ser), rs1330765290, gnomAD 13-27920225-C-T, CADD 12.00
- S29R (p.Ser29Arg), gnomAD 13-27920225-C-A, REVEL 0.25, CADD 19.40
- A30T (p.Ala30Thr), gnomAD rs1377828355, REVEL 0.16, CADD 13.00
- A30S (p.Ala30Ser), gnomAD 13-27920226-G-T, REVEL 0.17, CADD 10.70
- A30V (p.Ala30Val), gnomAD 13-27920227-C-T, REVEL 0.21, CADD 19.90
- A30A (p.Ala30Ala), gnomAD 13-27920228-C-A, CADD 10.50
- S31G (p.Ser31Gly), Ensembl rs2137502271, REVEL 0.26, CADD 19.80
- S31N (p.Ser31Asn), rs1449072088, ClinGen CA387643833, ClinVar RCV003090408, ClinVar RCV005011003, REVEL 0.25, CADD 21.30, Uncertain significance, Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabe
- S31R (p.Ser31Arg), gnomAD rs1313247586, REVEL 0.50, CADD 19.60
- S31T (p.Ser31Thr), TOPMed rs1449072088, gnomAD rs1449072088, REVEL 0.42, CADD 23.10, Uncertain significance
- S31I (p.Ser31Ile), gnomAD 13-27920230-G-T, REVEL 0.50, CADD 25.20
- S31S (p.Ser31Ser), gnomAD 13-27920231-C-T, CADD 10.20
- P32A (p.Pro32Ala), gnomAD rs1340060753
- P32L (p.Pro32Leu), gnomAD rs1245281170, REVEL 0.71, CADD 24.80
- P32R (p.Pro32Arg), NCI-TCGA TCGA novel, Uncertain significance, not provided
- P32S (p.Pro32Ser), gnomAD rs1340060753, REVEL 0.65, CADD 25.70
- P32T (p.Pro32Thr), gnomAD 13-27920232-C-A, REVEL 0.69, CADD 25.20
- P32H (p.Pro32His), gnomAD 13-27920233-C-A, REVEL 0.77, CADD 26.50
- P32P (p.Pro32Pro), gnomAD 13-27920234-C-A, CADD 12.60
- P33A (p.Pro33Ala), rs192902098, ClinGen CA6927579, ClinVar RCV001663754, ClinVar RCV002032659, REVEL 0.72, CADD 25.50, Conflicting interpretations, Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 4; not provi
- P33H (p.Pro33His), rs767363575, ClinGen CA6927581, ClinVar RCV001932971, ClinVar RCV002503590, REVEL 0.80, CADD 27.00, Uncertain significance, Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 4; Pancreati
- P33L (p.Pro33Leu), ExAC rs767363575, TOPMed rs767363575, gnomAD rs767363575, REVEL 0.75, CADD 27.80, Uncertain significance
- P33S (p.Pro33Ser), rs192902098, ClinGen CA6927580, ClinVar RCV002573844, ClinVar RCV003331374, REVEL 0.76, CADD 26.20, Uncertain significance, not provided; Pancreatic agenesis 1; Maturity-onset diabetes of the young type 4
- P33T (p.Pro33Thr), rs192902098, ClinGen CA325750, ClinVar RCV000030086, ClinVar RCV000414508, REVEL 0.93, CADD 25.90, Conflicting interpretations, Monogenic diabetes; not specified; Maturity-onset diabetes of the young
- P33P (p.Pro33Pro), rs925409013, gnomAD 13-27920237-T-C, CADD 7.80
- A34E (p.Ala34Glu), ExAC rs750219172, TOPMed rs750219172, gnomAD rs750219172, REVEL 0.59, CADD 27.30, Uncertain significance
- A34G (p.Ala34Gly), ExAC rs750219172, TOPMed rs750219172, gnomAD rs750219172, REVEL 0.53, CADD 27.40, Uncertain significance
- A34P (p.Ala34Pro), TOPMed rs1957772368, gnomAD rs1957772368
- A34T (p.Ala34Thr), TOPMed rs1957772368, gnomAD rs1957772368, REVEL 0.48, CADD 25.30
- A34V (p.Ala34Val), rs750219172, ClinGen CA6927582, ClinVar RCV001817577, ClinVar RCV003728021, REVEL 0.55, CADD 27.70, Uncertain significance, Pancreatic agenesis 1; Maturity-onset diabetes of the young type 4; Type 2 diabe
- A34C (p.Ala34Cys), gnomAD 13-27920230-G-GC, CADD 28.20
- A34S (p.Ala34Ser), gnomAD 13-27920238-G-T, REVEL 0.47, CADD 24.60
- A34A (p.Ala34Ala), gnomAD 13-27920240-G-T, CADD 10.80
- C35* (p.Cys35Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- C35G (p.Cys35Gly), gnomAD 13-27920241-T-G, REVEL 0.85, CADD 31.00
- C35F (p.Cys35Phe), gnomAD 13-27920242-G-T, REVEL 0.87, CADD 32.00
- C35Y (p.Cys35Tyr), gnomAD 13-27920242-G-A, REVEL 0.87, CADD 31.00
- C35C (p.Cys35Cys), gnomAD 13-27920243-C-T, CADD 13.10
- L36P (p.Leu36Pro), TOPMed rs936861677, gnomAD rs936861677, REVEL 0.78, CADD 32.00, Uncertain significance
- L36R (p.Leu36Arg), rs936861677, ClinGen CA247262919, ClinVar RCV002020957, ClinVar RCV002468380, REVEL 0.74, CADD 27.10, Uncertain significance, not provided; Type 2 diabetes mellitus; Maturity-onset diabetes of the young typ
- p.Leu36 Tyr37del, gnomAD 13-27920242-GCCTG, CADD 22.10
- L36M (p.Leu36Met), gnomAD 13-27920244-C-A, REVEL 0.62, CADD 24.60
- L36Q (p.Leu36Gln), gnomAD 13-27920245-T-A, REVEL 0.73, CADD 32.00
- Y37F (p.Tyr37Phe), rs1242190304, ClinGen CA387643864, ClinVar RCV000992180, ClinVar RCV002307649, REVEL 0.68, CADD 25.40, Uncertain significance, not provided; not specified
- M38I (p.Met38Ile), TOPMed rs1217156206, REVEL 0.42, CADD 24.70
- M38L (p.Met38Leu), rs1423992623, ClinGen CA387643871, ClinVar RCV003734352, TOPMed rs1423992623, REVEL 0.31, CADD 21.00, Uncertain significance, not provided
- M38V (p.Met38Val), gnomAD 13-27920250-A-G, REVEL 0.24, CADD 19.40
- M38T (p.Met38Thr), gnomAD 13-27920251-T-C, REVEL 0.44, CADD 24.30
- G39D (p.Gly39Asp), gnomAD rs1957772534, REVEL 0.53, CADD 25.40
Public PDX1 analysis runs
- PDX1 analysis run — PDX1 (792 variants) — completed 2026-08-21