PTPN4 (P29074) variants and mutations
PTPN4 (also known as P29074) is a human protein-coding gene encoding a tyrosine-protein phosphatase non-receptor type 4 protein. Its annotated function is phosphatase that plays a role in immunity, learning, synaptic plasticity or cell homeostasis. It is annotated at the cell membrane. This analysis covers 955 PTPN4 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes neurodegenerative disease, hereditary disease, and Intellectual disability. Example PTPN4 variants include T2P, T2A, and T2T.
Variant analysis overview
- Gene: PTPN4
- Protein: P29074
- UniProt accession: P29074
- Organism: Homo sapiens
- Variants analyzed: 955
- Variant scope: all variants
- Completed: 2026-10-23
Variant and mutation evidence
- Variant composition: 818 unspecified-consequence records; 116 missense variants; 61 synonymous variants; 8 stop-gained variants; 8 frameshift variants; 2 in-frame deletions; 9 splice-region variants; 1 substitution
- Prediction scores: 906 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, hereditary disease, Intellectual disability, neurodevelopmental disorder, Dupuytren Contracture, placenta praevia, severe acute respiratory syndrome, COVID-19, smoking initiation, fasciitis, scoliosis, posterior cortical atrophy.
Protein structure and variant hotspots
- Protein features: 3 domains; 3 binding sites; 1 post-translational modification sites.
- Structural context: 627 variants have structural context.
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 PTPN4 variants
Examples include T2P, T2A, T2T, R4C, R4H, R4R, R6*, R6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- T2P (p.Thr2Pro), TOPMed rs1390419226, gnomAD rs1390419226, REVEL 0.33, ESM-1b 0.00
- T2A (p.Thr2Ala), gnomAD 2-119809857-A-G, REVEL 0.12, ESM-1b 0.00
- T2T (p.Thr2Thr), gnomAD 2-119809859-C-T, CADD 12.50
- R4C (p.Arg4Cys), ESP rs372066860, ExAC rs372066860, TOPMed rs372066860, gnomAD rs372066860, REVEL 0.68, ESM-1b 1.00
- R4H (p.Arg4His), rs748499258, NCI-TCGA Cosmic COSV9974, ExAC rs748499258, gnomAD rs748499258, REVEL 0.54, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R4R (p.Arg4Arg), gnomAD 2-119809865-T-G, CADD 14.00
- R6* (p.Arg6Ter), gnomAD rs1366276778, CADD 47.00
- R6G (p.Arg6Gly), gnomAD rs1366276778, REVEL 0.47, ESM-1b 1.00
- R6Q (p.Arg6Gln), ESP rs144223649, ExAC rs144223649, TOPMed rs144223649, gnomAD rs144223649, REVEL 0.24, ESM-1b 1.00
- R6P (p.Arg6Pro), gnomAD 2-119809870-G-C, REVEL 0.55, ESM-1b 1.00
- R6L (p.Arg6Leu), gnomAD 2-119809870-G-T, REVEL 0.32, ESM-1b 1.00
- L7F (p.Leu7Phe), ExAC rs778359993, gnomAD rs778359993, REVEL 0.30, ESM-1b 0.00
- L7L (p.Leu7Leu), rs1295559149, gnomAD 2-119809872-T-C, CADD 13.70
- P8S (p.Pro8Ser), Ensembl rs2104948279, REVEL 0.19, ESM-1b 0.00
- P8R (p.Pro8Arg), gnomAD 2-119809876-C-G, REVEL 0.42, ESM-1b 0.00
- P8P (p.Pro8Pro), gnomAD 2-119809877-T-C, CADD 15.00
- A9S (p.Ala9Ser), Ensembl rs1691546455, REVEL 0.23, ESM-1b 0.00
- A9P (p.Ala9Pro), gnomAD 2-119809878-G-C, REVEL 0.49, ESM-1b 0.00
- A9A (p.Ala9Ala), rs1258971515, gnomAD 2-119809880-T-C, CADD 14.70
- G10G (p.Gly10Gly), rs745387211, gnomAD 2-119809883-C-G, CADD 13.60
- R11* (p.Arg11Ter), Ensembl rs2104948287
- R11S (p.Arg11Ser), Ensembl rs2104948289, ESM-1b 1.00, AlphaMissense 0.48
- T12A (p.Thr12Ala), gnomAD 2-119809887-A-G, REVEL 0.13, ESM-1b 0.35
- T12T (p.Thr12Thr), gnomAD 2-119809889-C-G, CADD 12.40
- Y13C (p.Tyr13Cys), gnomAD rs1488003248, REVEL 0.73, ESM-1b 1.00
- N14D (p.Asn14Asp), ExAC rs775350769, REVEL 0.21, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- N14H (p.Asn14His), ExAC rs775350769, ESM-1b 0.00, AlphaMissense 0.20
- N14K (p.Asn14Lys), gnomAD rs1249501161, REVEL 0.18, ESM-1b 1.00
- N14S (p.Asn14Ser), gnomAD rs963363739, REVEL 0.21, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- V15I (p.Val15Ile), rs760213839, ClinGen CA1849168, ClinVar RCV004445107, ExAC rs760213839, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R16* (p.Arg16Ter), gnomAD rs1187367972, CADD 39.00
- R16Q (p.Arg16Gln), rs866186886, NCI-TCGA Cosmic COSV5530, TOPMed rs866186886, gnomAD rs866186886, REVEL 0.49, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R16R (p.Arg16Arg), rs1187367972, gnomAD 2-119809899-C-A, CADD 12.40
- A17T (p.Ala17Thr), gnomAD 2-119809902-G-A, REVEL 0.10, ESM-1b 1.00
- S18L (p.Ser18Leu), ESP rs146543517, ExAC rs146543517, gnomAD rs146543517, REVEL 0.20, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- E19K (p.Glu19Lys), gnomAD 2-119809908-G-A, REVEL 0.54, ESM-1b 1.00
- E19E (p.Glu19Glu), gnomAD 2-119809910-G-A, CADD 10.20
- L20V (p.Leu20Val), gnomAD 2-119809911-T-G, REVEL 0.16, ESM-1b 1.00
- A21S (p.Ala21Ser), Ensembl rs1558732859, REVEL 0.18, ESM-1b 0.78
- R22Q (p.Arg22Gln), rs200544847, ESP rs200544847, ExAC rs200544847, TOPMed rs200544847, REVEL 0.42, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- R22R (p.Arg22Arg), gnomAD 2-119809917-C-A, CADD 10.60
- R22* (p.Arg22Ter), gnomAD 2-119809917-C-T, CADD 37.00
- R22L (p.Arg22Leu), gnomAD 2-119809918-G-T, REVEL 0.63, ESM-1b 1.00
- D23G (p.Asp23Gly), rs1368451762, gnomAD 2-119809921-A-G, REVEL 0.39, ESM-1b 0.64
- R24G (p.Arg24Gly), 1000Genomes rs146868631, ESP rs146868631, ExAC rs146868631, TOPMed rs146868631, REVEL 0.40, ESM-1b 1.00
- R24R (p.Arg24Arg), rs1691548915, gnomAD 2-119809925-A-G, CADD 14.10
- Q25L (p.Gln25Leu), Ensembl rs1691548957, ESM-1b 0.00, AlphaMissense 0.09
- Q25R (p.Gln25Arg), Ensembl rs1691548957, ESM-1b 0.00, AlphaMissense 0.11
- Q25H (p.Gln25His), gnomAD 2-119809928-G-C, REVEL 0.12, ESM-1b 0.00
- H26D (p.His26Asp), TOPMed rs1466144839, ESM-1b 1.00, AlphaMissense 0.17
- H26Q (p.His26Gln), TOPMed rs1691549028, ESM-1b 0.00, AlphaMissense 0.11
- H26H (p.His26His), gnomAD 2-119809931-T-C, CADD 8.65
- T27I (p.Thr27Ile), TOPMed rs1691549071, gnomAD rs1691549071, REVEL 0.42, ESM-1b 1.00
- T27S (p.Thr27Ser), TOPMed rs1691549071, gnomAD rs1691549071, REVEL 0.37, ESM-1b 0.00
- T27A (p.Thr27Ala), gnomAD 2-119809932-A-G, REVEL 0.25, ESM-1b 0.61
- T27T (p.Thr27Thr), rs765172241, gnomAD 2-119809934-T-G, CADD 9.62
- E28D (p.Glu28Asp), gnomAD rs1691549211, REVEL 0.22, ESM-1b 0.54
- E28G (p.Glu28Gly), gnomAD rs1389626690, REVEL 0.38, ESM-1b 1.00
- V29L (p.Val29Leu), ExAC rs750343839, gnomAD rs750343839, ESM-1b 0.10, AlphaMissense 0.25
- V29M (p.Val29Met), gnomAD 2-119809938-G-A, REVEL 0.49, ESM-1b 1.00
- V29E (p.Val29Glu), gnomAD 2-119809939-T-A, REVEL 0.88, ESM-1b 1.00
- V29V (p.Val29Val), rs763084181, gnomAD 2-119809940-G-A, CADD 10.90
- p.Val30 Asn32delinsAsp, rs1691549394, gnomAD 2-119809941-GTTTG, CADD 21.20
- C31G (p.Cys31Gly), NCI-TCGA Cosmic COSV9975, TOPMed rs1368451762, gnomAD rs1368451762, Variant assessed as somatic; moderate impact.
- C31L (p.Cys31Leu), gnomAD 2-119809941-G-GT, CADD 31.00
- N32D (p.Asn32Asp), ExAC rs766410710, TOPMed rs766410710, gnomAD rs766410710, REVEL 0.34, ESM-1b 1.00
- N32I (p.Asn32Ile), ExAC rs751852893, gnomAD rs751852893, REVEL 0.37, ESM-1b 1.00, Uncertain significance
- N32T (p.Asn32Thr), rs751852893, gnomAD 2-119809948-A-C, REVEL 0.31, ESM-1b 0.00
- N32S (p.Asn32Ser), gnomAD 2-119809948-A-G, REVEL 0.27, ESM-1b 0.00
- N32N (p.Asn32Asn), gnomAD 2-119809949-C-T, CADD 9.85
- I33V (p.Ile33Val), gnomAD rs1313332778, REVEL 0.11, ESM-1b 0.00
- I33L (p.Ile33Leu), gnomAD 2-119809950-A-C, REVEL 0.40, ESM-1b 1.00
- L34P (p.Leu34Pro), Ensembl rs2104948356, ESM-1b 1.00, AlphaMissense 0.86
- L34R (p.Leu34Arg), gnomAD 2-119809954-T-G, REVEL 0.53, ESM-1b 0.00
- L35L (p.Leu35Leu), rs755181333, gnomAD 2-119809958-T-C, CADD 11.30
- L36L (p.Leu36Leu), rs781440488, gnomAD 2-119809961-G-A, CADD 11.70
- D37G (p.Asp37Gly), gnomAD 2-119809963-A-G, REVEL 0.93, ESM-1b 1.00
- N38D (p.Asn38Asp), Ensembl rs1691549703, REVEL 0.21, ESM-1b 0.00
- N38K (p.Asn38Lys), gnomAD 2-119809967-C-G, REVEL 0.29, ESM-1b 1.00
- T39A (p.Thr39Ala), rs368669233, ClinGen CA1849179, ClinVar RCV002648438, ESP rs368669233, REVEL 0.51, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- T39S (p.Thr39Ser), TOPMed rs1247625783, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- V40I (p.Val40Ile), gnomAD 2-119809971-G-A, REVEL 0.26, ESM-1b 0.00
- Q41E (p.Gln41Glu), Ensembl rs923989200, REVEL 0.29, ESM-1b 0.00
- Q41K (p.Gln41Lys), Ensembl rs923989200, ESM-1b 1.00, AlphaMissense 0.11
- Q41Q (p.Gln41Gln), rs756446907, gnomAD 2-119809976-A-G, CADD 9.20
- A42D (p.Ala42Asp), gnomAD rs1207670265, REVEL 0.33, ESM-1b 0.04, Uncertain significance, Inborn genetic diseases
- A42T (p.Ala42Thr), gnomAD 2-119809977-G-A, REVEL 0.27, ESM-1b 0.00
- A42A (p.Ala42Ala), gnomAD 2-119809979-T-C, CADD 12.20
- F43L (p.Phe43Leu), gnomAD 2-119809982-C-A, REVEL 0.49, ESM-1b 1.00
- K44E (p.Lys44Glu), gnomAD rs1240011706, REVEL 0.19, ESM-1b 1.00
- K44N (p.Lys44Asn), Ensembl rs1457060082, REVEL 0.31, ESM-1b 1.00
- K44Q (p.Lys44Gln), gnomAD 2-119809983-A-C, REVEL 0.22, ESM-1b 0.00
- K44R (p.Lys44Arg), gnomAD 2-119809984-A-G, REVEL 0.15, ESM-1b 0.00
- K44K (p.Lys44Lys), gnomAD 2-119809985-A-G, CADD 12.30
- V45L (p.Val45Leu), gnomAD rs1691550118, REVEL 0.38, ESM-1b 0.00
- N46S (p.Asn46Ser), rs1199991850, ClinGen CA348188182, ClinVar RCV002896465, TOPMed rs1199991850, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- N46I (p.Asn46Ile), gnomAD 2-119809990-A-T, REVEL 0.49, ESM-1b 1.00
- N46N (p.Asn46Asn), rs144382245, gnomAD 2-119809991-T-C, CADD 13.80
- K47N (p.Lys47Asn), rs767649368, ClinGen CA1849202, ClinVar RCV002911259, ExAC rs767649368, REVEL 0.70, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- K47E (p.Lys47Glu), gnomAD 2-119862536-A-G, REVEL 0.85, ESM-1b 1.00
- K47* (p.Lys47Ter), gnomAD 2-119862536-A-T, CADD 40.00
- K47R (p.Lys47Arg), gnomAD 2-119862537-A-G, REVEL 0.60, ESM-1b 0.00
- K47K (p.Lys47Lys), gnomAD 2-119862538-A-G, CADD 17.00
- H48N (p.His48Asn), gnomAD rs1427493573, REVEL 0.19, ESM-1b 0.00
- H48R (p.His48Arg), Ensembl rs1677776194, REVEL 0.28, ESM-1b 0.38
- H48Y (p.His48Tyr), gnomAD 2-119862539-C-T, REVEL 0.46, ESM-1b 1.00
- H48L (p.His48Leu), gnomAD 2-119862540-A-T, REVEL 0.46, ESM-1b 1.00
- H48Q (p.His48Gln), gnomAD 2-119862541-T-A, REVEL 0.12, ESM-1b 0.00
- D49L (p.Asp49Leu), gnomAD 2-119862540-A-ATT, CADD 29.10
- D49Y (p.Asp49Tyr), gnomAD 2-119862542-G-T, REVEL 0.56, ESM-1b 1.00
- D49V (p.Asp49Val), gnomAD 2-119862543-A-T, REVEL 0.57, ESM-1b 0.55
- Q50K (p.Gln50Lys), TOPMed rs756846077, REVEL 0.34, ESM-1b 0.00
- Q50R (p.Gln50Arg), gnomAD 2-119862544-TC-T, CADD 32.00
- Q50* (p.Gln50Ter), gnomAD 2-119862545-C-T, CADD 39.00
- Q50H (p.Gln50His), gnomAD 2-119862547-G-T, REVEL 0.17, ESM-1b 0.00
- Q50Q (p.Gln50Gln), gnomAD 2-119862547-G-A, CADD 8.35
- G51T (p.Gly51Thr), rs751852893, NCI-TCGA TCGA novel, ClinGen CA1849176, ClinVar RCV002713594, MetaLR 0.22, MetaSVM -0.74, Uncertain significance
- G51R (p.Gly51Arg), gnomAD 2-119862548-G-A, REVEL 0.95, ESM-1b 1.00
- G51W (p.Gly51Trp), gnomAD 2-119862548-G-T, REVEL 0.96, ESM-1b 1.00
- G51E (p.Gly51Glu), gnomAD 2-119862549-G-A, REVEL 0.93, ESM-1b 1.00
- G51G (p.Gly51Gly), gnomAD 2-119862550-G-T, CADD 7.92
- Q52R (p.Gln52Arg), TOPMed rs1025735746, REVEL 0.72, ESM-1b 0.69
- Q52Q (p.Gln52Gln), rs752953985, gnomAD 2-119862553-A-G, CADD 11.10
- V53L (p.Val53Leu), gnomAD rs1415308829, REVEL 0.37, ESM-1b 0.66
- V53V (p.Val53Val), gnomAD 2-119862556-C-T, CADD 9.12
- L54F (p.Leu54Phe), gnomAD 2-119862559-G-T, REVEL 0.74, ESM-1b 1.00
- L54L (p.Leu54Leu), rs1677776439, gnomAD 2-119862559-G-A, CADD 7.36
- L55L (p.Leu55Leu), rs756616032, gnomAD 2-119862562-G-A, CADD 12.80
- L55F (p.Leu55Phe), gnomAD 2-119862562-G-T, REVEL 0.60, ESM-1b 0.36
- D56E (p.Asp56Glu), TOPMed rs1195338131, ESM-1b 0.00, AlphaMissense 0.14
- D56H (p.Asp56His), TOPMed rs1268115511, gnomAD rs1268115511, REVEL 0.87, ESM-1b 1.00
- D56V (p.Asp56Val), gnomAD 2-119862564-A-T, REVEL 0.93, ESM-1b 1.00
- V57F (p.Val57Phe), gnomAD 2-119862566-G-T, REVEL 0.27, ESM-1b 0.00
- V57V (p.Val57Val), rs147806060, gnomAD 2-119862568-C-T, CADD 10.40
- V58I (p.Val58Ile), rs754446836, ClinGen CA1849206, ClinVar RCV004445102, ExAC rs754446836, REVEL 0.52, ESM-1b 0.85, Uncertain significance, Inborn genetic diseases
- V58F (p.Val58Phe), gnomAD 2-119862569-G-T, REVEL 0.94, ESM-1b 1.00
- F59F (p.Phe59Phe), gnomAD 2-119862574-C-T, CADD 13.40
- K60M (p.Lys60Met), gnomAD 2-119862576-A-T, REVEL 0.61, ESM-1b 1.00
- K60K (p.Lys60Lys), rs1677776724, gnomAD 2-119862577-G-A, CADD 10.70
- H61R (p.His61Arg), ExAC rs757862652, gnomAD rs757862652, REVEL 0.49, ESM-1b 1.00
- L62P (p.Leu62Pro), Ensembl rs2104987926, ESM-1b 1.00, AlphaMissense 0.98
- L62V (p.Leu62Val), gnomAD rs1317528901, REVEL 0.60, ESM-1b 1.00
- L62L (p.Leu62Leu), rs1317528901, gnomAD 2-119862581-C-T, CADD 12.80
- D63N (p.Asp63Asn), TOPMed rs1324562768, gnomAD rs1324562768, REVEL 0.22, ESM-1b 0.00
- L64F (p.Leu64Phe), rs1351098041, NCI-TCGA Cosmic COSV5529, gnomAD rs1351098041, REVEL 0.84, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- L64W (p.Leu64Trp), rs1677776998, ClinGen CA348185321, ClinVar RCV001267875, Ensembl rs1677776998, ESM-1b 1.00, AlphaMissense 0.95, Uncertain significance, not provided
- L64* (p.Leu64Ter), gnomAD 2-119862588-T-A, CADD 38.00
- T65T (p.Thr65Thr), rs779409127, gnomAD 2-119862592-T-C, CADD 10.40
- E66E (p.Glu66Glu), rs1677777122, gnomAD 2-119862595-G-A, CADD 8.72
- Q67Q (p.Gln67Gln), rs1677777168, gnomAD 2-119862598-G-A, CADD 4.24
- Y69C (p.Tyr69Cys), Ensembl rs1677777215, REVEL 0.96, ESM-1b 1.00
- F70Y (p.Phe70Tyr), gnomAD rs1401955462, REVEL 0.88, ESM-1b 0.86
- G71G (p.Gly71Gly), gnomAD 2-119862610-T-C, CADD 13.70
- L72I (p.Leu72Ile), gnomAD 2-119862611-T-A, REVEL 0.77, ESM-1b 1.00
- Q73H (p.Gln73His), TOPMed rs1277603692, gnomAD rs1277603692, REVEL 0.43, ESM-1b 0.21
- Q73* (p.Gln73Ter), gnomAD 2-119862614-C-T, CADD 39.00
- L74M (p.Leu74Met), gnomAD 2-119862617-T-A, REVEL 0.47, ESM-1b 0.00
- A75T (p.Ala75Thr), gnomAD 2-119862620-G-A, REVEL 0.07, ESM-1b 0.00
- A75A (p.Ala75Ala), rs746513137, gnomAD 2-119862622-T-C, CADD 14.30
- D76D (p.Asp76Asp), rs137905147, gnomAD 2-119862625-T-C, CADD 6.45
- D77N (p.Asp77Asn), ExAC rs552737169, gnomAD rs552737169, REVEL 0.30, ESM-1b 0.00
- D77E (p.Asp77Glu), gnomAD 2-119862628-T-A, REVEL 0.29, ESM-1b 0.00
- S78C (p.Ser78Cys), 1000Genomes rs145726868, ExAC rs145726868, TOPMed rs145726868, gnomAD rs145726868, REVEL 0.31, ESM-1b 0.23
- S78F (p.Ser78Phe), 1000Genomes rs145726868, ExAC rs145726868, TOPMed rs145726868, gnomAD rs145726868, REVEL 0.41, ESM-1b 0.67
- S78T (p.Ser78Thr), gnomAD 2-119862629-T-A, REVEL 0.22, ESM-1b 0.00
- T79A (p.Thr79Ala), rs773010444, NCI-TCGA Cosmic COSV5530, ExAC rs773010444, TOPMed rs773010444, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T79C (p.Thr79Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T79K (p.Thr79Lys), gnomAD 2-119862633-C-A, REVEL 0.06, ESM-1b 0.00
- D80A (p.Asp80Ala), TOPMed rs1677777646, gnomAD rs1677777646, REVEL 0.77, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- D80G (p.Asp80Gly), gnomAD 2-119862636-A-G, REVEL 0.66, ESM-1b 0.00
- N81K (p.Asn81Lys), gnomAD rs921771124, REVEL 0.18, ESM-1b 0.39
- N81S (p.Asn81Ser), Ensembl rs1677777680, REVEL 0.31, ESM-1b 0.00
- N81Y (p.Asn81Tyr), gnomAD 2-119862638-A-T, REVEL 0.45, ESM-1b 1.00
- N81I (p.Asn81Ile), gnomAD 2-119862639-A-T, REVEL 0.20, ESM-1b 0.31
- N81N (p.Asn81Asn), rs921771124, gnomAD 2-119862640-C-T, CADD 9.96
- P82A (p.Pro82Ala), gnomAD 2-119862641-C-G, REVEL 0.40, ESM-1b 0.26
- P82P (p.Pro82Pro), rs933274312, gnomAD 2-119862643-A-G, CADD 16.20
- R83M (p.Arg83Met), gnomAD 2-119877324-G-T, REVEL 0.65, ESM-1b 1.00
- R83T (p.Arg83Thr), gnomAD 2-119877324-G-C, REVEL 0.51, ESM-1b 1.00
- R83R (p.Arg83Arg), rs750935739, gnomAD 2-119877325-G-A, CADD 15.90
Public PTPN4 analysis runs
- PTPN4 analysis run — PTPN4 (955 variants) — completed 2026-10-23