BAX (Apoptosis regulator BAX) variants and mutations
BAX (also known as Apoptosis regulator BAX) is a human protein-coding gene encoding an apoptosis regulator protein. During intrinsic apoptosis, it oligomerizes in the mitochondrial outer membrane to release cytochrome c and activate caspases. Altered BAX activity can change cellular sensitivity to stress and anticancer therapy. This analysis covers 431 BAX variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes T-cell acute lymphoblastic leukemia, colon carcinoma, and endometrial carcinoma. Example BAX variants include D2Y, D2N, and D2G.
Variant analysis overview
- Gene: BAX
- Protein: Apoptosis regulator BAX
- UniProt accession: Q07812
- Organism: Homo sapiens
- Variants analyzed: 431
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 270 unspecified-consequence records; 6 stop-gained variants; 91 missense variants; 40 synonymous variants; 16 frameshift variants; 3 splice-region variants; 6 substitution
- Prediction scores: 406 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: T-cell acute lymphoblastic leukemia, colon carcinoma, endometrial carcinoma, neurodegenerative disease, colon adenocarcinoma, gastric adenocarcinoma, colorectal adenocarcinoma, endometrium adenocarcinoma, bile duct carcinoma, endometrial endometrioid adenocarcinoma, duodenal adenocarcinoma, gastric intestinal type adenocarcinoma.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 post-translational modification sites.
- Structural context: 22 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 BAX variants
Examples include D2Y, D2N, D2G, D2E, G3R, G3W, G3*, G3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- D2Y (p.Asp2Tyr), TOPMed rs1387225550, gnomAD rs1387225550, REVEL 0.18, CADD 34.00
- D2N (p.Asp2Asn), gnomAD 19-48954932-G-A, REVEL 0.10, CADD 32.00
- D2G (p.Asp2Gly), gnomAD 19-48954933-A-G, REVEL 0.13, CADD 34.00
- D2E (p.Asp2Glu), gnomAD 19-48954934-C-A, REVEL 0.10, CADD 29.30
- G3R (p.Gly3Arg), ExAC rs553879570, TOPMed rs553879570, gnomAD rs553879570, REVEL 0.13, CADD 32.00, Uncertain significance
- G3W (p.Gly3Trp), rs553879570, ClinGen CA9562100, ClinVar RCV004189962, ExAC rs553879570, REVEL 0.12, CADD 32.00, Uncertain significance, not specified
- G3* (p.Gly3Ter), gnomAD 19-48954931-G-T, REVEL 0.34, CADD 32.00
- G3V (p.Gly3Val), gnomAD 19-48954936-G-T, REVEL 0.10, CADD 26.80
- G3E (p.Gly3Glu), gnomAD 19-48954936-G-A, REVEL 0.13, CADD 26.80
- G3G (p.Gly3Gly), gnomAD 19-48954937-G-A, CADD 16.50
- S4A (p.Ser4Ala), Ensembl rs894774952, REVEL 0.05, CADD 27.00
- S4C (p.Ser4Cys), ExAC rs749316753, TOPMed rs749316753, gnomAD rs749316753, REVEL 0.05, CADD 33.00
- S4P (p.Ser4Pro), rs894774952, ClinGen CA406749195, ClinVar RCV004121640, REVEL 0.15, CADD 32.00, Uncertain significance, not specified
- S4Y (p.Ser4Tyr), cosmic curated COSV53171, ExAC rs749316753, TOPMed rs749316753, gnomAD rs749316753, REVEL 0.07, CADD 33.00
- S4F (p.Ser4Phe), gnomAD 19-48954939-C-T, REVEL 0.06, CADD 33.00
- S4S (p.Ser4Ser), gnomAD 19-48954940-C-A, CADD 21.40
- G5R (p.Gly5Arg), TOPMed rs1600099752, gnomAD rs1600099752, REVEL 0.05, CADD 31.00
- G5W (p.Gly5Trp), gnomAD 19-48954941-G-T, REVEL 0.16, CADD 32.00
- G5V (p.Gly5Val), gnomAD 19-48954942-G-T, REVEL 0.12, CADD 32.00
- G5E (p.Gly5Glu), gnomAD 19-48954942-G-A, REVEL 0.05, MetaLR 0.10
- G5A (p.Gly5Ala), gnomAD 19-48954942-G-C, REVEL 0.06, MetaLR 0.07
- G5* (p.Gly5Ter), gnomAD 19-48954943-G-T, CADD 23.90
- E6* (p.Glu6Ter), 1000Genomes rs536405925, TOPMed rs536405925, CADD 50.00
- E6K (p.Glu6Lys), 1000Genomes rs536405925, TOPMed rs536405925, REVEL 0.03, CADD 26.70
- E6S (p.Glu6Ser), gnomAD 19-48954940-CG-C, CADD 32.00
- E6A (p.Glu6Ala), gnomAD 19-48954940-CGG-C, CADD 32.00
- E6G (p.Glu6Gly), gnomAD 19-48954945-A-G, REVEL 0.04, MetaLR 0.06
- E6D (p.Glu6Asp), gnomAD 19-48954946-G-T, REVEL 0.02, MetaLR 0.05
- Q7H (p.Gln7His), NCI-TCGA TCGA novel, Ensembl rs2038063190, REVEL 0.12, CADD 16.80, Variant assessed as somatic; moderate impact.
- Q7R (p.Gln7Arg), TOPMed rs1478724845, gnomAD rs1478724845, REVEL 0.08, CADD 23.00, Uncertain significance, not specified
- Q7* (p.Gln7Ter), gnomAD 19-48954947-C-T, CADD 40.00, SIFT 0.00
- Q7K (p.Gln7Lys), gnomAD 19-48954947-C-A, REVEL 0.03, MetaLR 0.06
- Q7L (p.Gln7Leu), gnomAD 19-48954948-A-T, REVEL 0.07, MetaLR 0.06
- P8T (p.Pro8Thr), gnomAD 19-48954950-C-A, REVEL 0.01, MetaLR 0.04
- P8S (p.Pro8Ser), gnomAD 19-48954950-C-T, REVEL 0.02, MetaLR 0.04
- P8R (p.Pro8Arg), gnomAD 19-48954951-C-G, REVEL 0.01, MetaLR 0.04
- P8H (p.Pro8His), gnomAD 19-48954951-C-A, REVEL 0.02, MetaLR 0.05
- R9K (p.Arg9Lys), Ensembl rs74422693, REVEL 0.02, CADD 25.10
- R9W (p.Arg9Trp), rs1287193257, gnomAD 19-48954934-C-T, CADD 17.20
- R9G (p.Arg9Gly), rs1379636521, gnomAD 19-48954940-C-G, CADD 19.40
- R9* (p.Arg9Ter), gnomAD 19-48954953-A-T, CADD 37.00, SIFT 0.06
- R9I (p.Arg9Ile), gnomAD 19-48954954-G-T, REVEL 0.06, MetaLR 0.04
- R9S (p.Arg9Ser), gnomAD 19-48954955-A-T, REVEL 0.01, MetaLR 0.04
- G10S (p.Gly10Ser), gnomAD 19-48954956-G-A, REVEL 0.03, MetaLR 0.06
- G10C (p.Gly10Cys), gnomAD 19-48954956-G-T, REVEL 0.05, MetaLR 0.10
- G10V (p.Gly10Val), gnomAD 19-48954957-G-T, REVEL 0.06, MetaLR 0.08
- G10G (p.Gly10Gly), rs1288757249, gnomAD 19-48954958-C-A, CADD 14.90
- G11E (p.Gly11Glu), rs555248599, cosmic curated COSV99509, UniProt VAR 013575, 1000Genomes rs555248599, REVEL 0.07, CADD 25.20, Benign, in a plasmacytoma cell line
- G11R (p.Gly11Arg), ExAC rs770934324, TOPMed rs770934324, gnomAD rs770934324, REVEL 0.06, CADD 26.00
- G11W (p.Gly11Trp), ExAC rs770934324, TOPMed rs770934324, gnomAD rs770934324, REVEL 0.07, CADD 26.90
- G11A (p.Gly11Ala), rs1447224934, gnomAD 19-48954956-G-GGC, CADD 28.00
- G11V (p.Gly11Val), gnomAD 19-48954960-G-T, REVEL 0.08, MetaLR 0.11
- G12A (p.Gly12Ala), gnomAD rs1353084211, REVEL 0.08, CADD 24.30
- G12E (p.Gly12Glu), gnomAD rs1353084211, REVEL 0.13, CADD 25.30
- G12W (p.Gly12Trp), TOPMed rs2038064279, CADD 21.50
- G12R (p.Gly12Arg), gnomAD 19-48954961-G-A, CADD 18.80, SIFT 1.00
- G12G (p.Gly12Gly), rs200327680, gnomAD 19-48955549-G-A, CADD 19.50
- P13A (p.Pro13Ala), cosmic curated COSV10735, MetaLR 0.08, MetaSVM -1.06
- P13P (p.Pro13Pro), gnomAD 19-48955552-C-A, CADD 14.10
- T14I (p.Thr14Ile), ESP rs144179827, ExAC rs144179827, gnomAD rs144179827, REVEL 0.09, CADD 23.90
- S15G (p.Ser15Gly), rs151036634, ClinGen CA9562131, ClinVar RCV004194015, 1000Genomes rs151036634, REVEL 0.13, CADD 22.90, Uncertain significance, not specified
- S16C (p.Ser16Cys), ExAC rs762579313, gnomAD rs762579313, REVEL 0.12, CADD 26.60
- E17Q (p.Glu17Gln), Ensembl rs1600101064, MetaLR 0.14, MetaSVM -0.96
- E17G (p.Glu17Gly), gnomAD 19-48955563-A-G, REVEL 0.25, MetaLR 0.13
- E17D (p.Glu17Asp), gnomAD 19-48955564-G-C, REVEL 0.14, MetaLR 0.07
- Q18K (p.Gln18Lys), cosmic curated COSV53169, MetaLR 0.07, MetaSVM -1.08
- Q18* (p.Gln18Ter), gnomAD 19-48955565-C-T, CADD 42.00
- Q18H (p.Gln18His), gnomAD 19-48955567-G-C, REVEL 0.12, MetaLR 0.07
- I19N (p.Ile19Asn), ESP rs374123839, ExAC rs374123839, TOPMed rs374123839, gnomAD rs374123839, REVEL 0.24, CADD 28.30
- M20T (p.Met20Thr), gnomAD 19-48955572-T-C, REVEL 0.23, MetaLR 0.14
- K21E (p.Lys21Glu), Ensembl rs2038091165, MetaLR 0.07, MetaSVM -1.08
- K21* (p.Lys21Ter), gnomAD 19-48955573-G-GT, CADD 35.00
- K21K (p.Lys21Lys), rs751559000, gnomAD 19-48955576-G-A, CADD 15.90
- T22A (p.Thr22Ala), gnomAD rs1200395604, MetaLR 0.13, MetaSVM -1.03
- T22P (p.Thr22Pro), gnomAD rs1200395604, REVEL 0.15, CADD 25.00
- T22S (p.Thr22Ser), gnomAD 19-48955577-A-T, REVEL 0.10, MetaLR 0.13
- T22I (p.Thr22Ile), gnomAD 19-48955578-C-T, REVEL 0.15, MetaLR 0.13
- G23R (p.Gly23Arg), Ensembl rs950323788, REVEL 0.24, CADD 29.90
- G23E (p.Gly23Glu), gnomAD 19-48955581-G-A, REVEL 0.23, MetaLR 0.16
- G23G (p.Gly23Gly), rs140986746, gnomAD 19-48955582-G-A, CADD 14.80
- A24V (p.Ala24Val), cosmic curated COSV53170, TOPMed rs2038091990, gnomAD rs2038091990, REVEL 0.15, CADD 26.00
- A24T (p.Ala24Thr), rs2038062917, gnomAD 19-48954946-G-A, CADD 14.60, SIFT 0.04
- A24P (p.Ala24Pro), rs771938966, gnomAD 19-48955578-CAG-C, CADD 33.00
- A24S (p.Ala24Ser), gnomAD 19-48955583-G-T, REVEL 0.09, MetaLR 0.15
- L25P (p.Leu25Pro), Ensembl rs2122334143, MetaLR 0.11, MetaSVM -1.04
- L25F (p.Leu25Phe), gnomAD 19-48955586-C-T, REVEL 0.05, MetaLR 0.04
- L25I (p.Leu25Ile), gnomAD 19-48955586-C-A, REVEL 0.04, MetaLR 0.05
- L26* (p.Leu26Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L27F (p.Leu27Phe), Ensembl rs2038092252, MetaLR 0.33, MetaSVM -0.52
- G29D (p.Gly29Asp), ExAC rs767455891, TOPMed rs767455891, gnomAD rs767455891, REVEL 0.19, CADD 31.00
- G29R (p.Gly29Arg), gnomAD rs1216433893, REVEL 0.18, CADD 26.90
- G29V (p.Gly29Val), cosmic curated COSV53170, MetaLR 0.14, MetaSVM -0.92
- F30C (p.Phe30Cys), gnomAD 19-48955689-T-G, REVEL 0.37, MetaLR 0.14
- F30L (p.Phe30Leu), gnomAD 19-48955690-C-A, REVEL 0.12, MetaLR 0.21
- I31V (p.Ile31Val), Ensembl rs2038096369, MetaLR 0.05, MetaSVM -1.09
- I31T (p.Ile31Thr), rs1362721061, gnomAD 19-48955691-AT-A, CADD 29.70
- I31L (p.Ile31Leu), gnomAD 19-48955691-A-C, REVEL 0.07, MetaLR 0.07
- I31I (p.Ile31Ile), rs1203955358, gnomAD 19-48955693-C-T, CADD 17.50
- Q32K (p.Gln32Lys), gnomAD 19-48955694-C-A, REVEL 0.07, MetaLR 0.06
- Q32E (p.Gln32Glu), gnomAD 19-48955694-C-G, REVEL 0.03, MetaLR 0.06
- D33N (p.Asp33Asn), Ensembl rs1600101348, MetaLR 0.08, MetaSVM -1.10
- R34* (p.Arg34Ter), ExAC rs752527728, gnomAD rs752527728, CADD 40.00
- R34L (p.Arg34Leu), ExAC rs760586942, TOPMed rs760586942, gnomAD rs760586942, MetaLR 0.11, MetaSVM -0.82
- R34P (p.Arg34Pro), rs760586942, ExAC rs760586942, TOPMed rs760586942, gnomAD rs760586942, REVEL 0.27, CADD 32.00, Variant assessed as somatic; moderate impact.
- R34Q (p.Arg34Gln), ExAC rs760586942, TOPMed rs760586942, gnomAD rs760586942, REVEL 0.08, CADD 26.50
- R34R (p.Arg34Arg), rs752527728, gnomAD 19-48955700-C-A, CADD 18.60
- A35S (p.Ala35Ser), ExAC rs750670287, gnomAD rs750670287, REVEL 0.07, CADD 22.70
- A35E (p.Ala35Glu), gnomAD 19-48955704-C-A, REVEL 0.13, MetaLR 0.13
- A35A (p.Ala35Ala), rs4645885, gnomAD 19-48955705-A-C, CADD 7.55, SIFT 0.00
- G36A (p.Gly36Ala), cosmic curated COSV10735, MetaLR 0.11, MetaSVM -0.95
- G36W (p.Gly36Trp), gnomAD rs1379715285, REVEL 0.05, CADD 26.70
- G36E (p.Gly36Glu), gnomAD 19-48955707-G-A, REVEL 0.06, MetaLR 0.11
- G36G (p.Gly36Gly), gnomAD 19-48955708-G-T, CADD 13.40, SIFT 0.01
- R37* (p.Arg37Ter), cosmic curated COSV53169, CADD 37.00
- R37G (p.Arg37Gly), cosmic curated COSV10735, ExAC rs766476607, gnomAD rs766476607, REVEL 0.16, CADD 24.40
- R37Q (p.Arg37Gln), cosmic curated COSV10609, ExAC rs751678403, TOPMed rs751678403, gnomAD rs751678403, REVEL 0.07, CADD 22.10
- M38I (p.Met38Ile), rs141306106, ClinGen CA9562163, cosmic curated COSV10735, ClinVar RCV004425912, REVEL 0.09, CADD 16.30, Uncertain significance, not specified
- M38N (p.Met38Asn), rs1318061746, gnomAD 19-48955710-G-GA, CADD 25.00
- M38L (p.Met38Leu), gnomAD 19-48955712-A-T, REVEL 0.13, MetaLR 0.04
- M38R (p.Met38Arg), gnomAD 19-48955713-T-G, REVEL 0.15, MetaLR 0.11
- M38K (p.Met38Lys), gnomAD 19-48955713-T-A, REVEL 0.16, MetaLR 0.11
- G39A (p.Gly39Ala), cosmic curated COSV53171, 1000Genomes rs147630961, ESP rs147630961, ExAC rs147630961, REVEL 0.01, CADD 20.60
- G39E (p.Gly39Glu), 1000Genomes rs147630961, ESP rs147630961, ExAC rs147630961, TOPMed rs147630961, REVEL 0.15, CADD 23.60
- G39R (p.Gly39Arg), rs36017265, UniProt VAR 047053, ESP rs36017265, ExAC rs36017265, REVEL 0.09, CADD 23.50
- G39V (p.Gly39Val), 1000Genomes rs147630961, ESP rs147630961, ExAC rs147630961, TOPMed rs147630961, REVEL 0.12, CADD 24.70
- G39W (p.Gly39Trp), ESP rs36017265, ExAC rs36017265, TOPMed rs36017265, gnomAD rs36017265, REVEL 0.19, CADD 25.60
- G39G (p.Gly39Gly), rs745430026, gnomAD 19-48955717-G-A, CADD 7.24, SIFT 0.00
- G40E (p.Gly40Glu), gnomAD rs1212791807, REVEL 0.09, CADD 22.50
- G40V (p.Gly40Val), gnomAD 19-48955719-G-T, REVEL 0.12, MetaLR 0.10
- G40G (p.Gly40Gly), rs772133190, gnomAD 19-48955720-G-T, CADD 12.80, SIFT 0.00
- E41* (p.Glu41Ter), cosmic curated COSV10735, CADD 36.00
- E41D (p.Glu41Asp), Ensembl rs771974334, MetaLR 0.04, MetaSVM -0.99
- E41K (p.Glu41Lys), cosmic curated COSV53169, ExAC rs760328116, TOPMed rs760328116, gnomAD rs760328116, REVEL 0.09, CADD 23.60
- E41Q (p.Glu41Gln), ExAC rs760328116, TOPMed rs760328116, gnomAD rs760328116, REVEL 0.08, CADD 21.90
- E41R (p.Glu41Arg), rs398122840, gnomAD 19-48955713-TG-T, CADD 23.70
- E41G (p.Glu41Gly), rs398122840, gnomAD 19-48955713-T-TG, CADD 28.40
- A42S (p.Ala42Ser), cosmic curated COSV99508
- A42T (p.Ala42Thr), gnomAD rs1039312028, REVEL 0.01, CADD 8.28
- A42V (p.Ala42Val), ExAC rs763971444, gnomAD rs763971444, REVEL 0.05, CADD 19.30
- A42E (p.Ala42Glu), gnomAD 19-48955725-C-A, REVEL 0.07, MetaLR 0.07
- P43S (p.Pro43Ser), Ensembl rs1183813464, REVEL 0.03, CADD 15.70
- P43P (p.Pro43Pro), rs773265755, gnomAD 19-48955729-C-A, CADD 4.11, SIFT 0.00
- E44D (p.Glu44Asp), ExAC rs763131347, gnomAD rs763131347, REVEL 0.19, CADD 22.20
- E44K (p.Glu44Lys), cosmic curated COSV53171, Ensembl rs2038100917
- E44Q (p.Glu44Gln), cosmic curated COSV53170, MetaLR 0.09, MetaSVM -1.04
- E44V (p.Glu44Val), cosmic curated COSV10735, REVEL 0.20, CADD 22.80
- E44* (p.Glu44Ter), gnomAD 19-48955730-G-T, CADD 37.00
- E44E (p.Glu44Glu), rs763131347, gnomAD 19-48955732-G-A, CADD 13.70, SIFT 0.05
- A46T (p.Ala46Thr), gnomAD rs1324504320, REVEL 0.04, CADD 21.20
- A46V (p.Ala46Val), gnomAD rs1166445718, REVEL 0.04, CADD 16.50
- A46S (p.Ala46Ser), gnomAD 19-48955736-G-T, REVEL 0.01, MetaLR 0.04
- A46A (p.Ala46Ala), rs1568604478, gnomAD 19-48955738-C-T, CADD 14.40, SIFT 0.01
- L47W (p.Leu47Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L47L (p.Leu47Leu), rs1368635629, gnomAD 19-48955739-C-T, CADD 9.59
- L47Q (p.Leu47Gln), gnomAD 19-48955740-T-A, REVEL 0.13, MetaLR 0.13
- D48Y (p.Asp48Tyr), gnomAD rs2038101851, REVEL 0.04, CADD 25.30
- D48T (p.Asp48Thr), gnomAD 19-48955740-TG-T, CADD 26.20
- D48H (p.Asp48His), gnomAD 19-48955742-G-C, REVEL 0.03, MetaLR 0.13
- D48G (p.Asp48Gly), gnomAD 19-48955743-A-G, REVEL 0.02, MetaLR 0.06
- D48E (p.Asp48Glu), gnomAD 19-48955744-C-G, REVEL 0.01, MetaLR 0.03
- P49L (p.Pro49Leu), TOPMed rs1253388076, REVEL 0.02, CADD 21.00
- P49R (p.Pro49Arg), TOPMed rs1253388076
- P49S (p.Pro49Ser), NCI-TCGA TCGA novel, MetaLR 0.04, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- P49P (p.Pro49Pro), rs2038102278, gnomAD 19-48955747-G-C, CADD 13.70, SIFT 0.00
- V50G (p.Val50Gly), gnomAD 19-48955748-GT-G, CADD 7.66
- V50L (p.Val50Leu), gnomAD 19-48955748-G-C, REVEL 0.02, MetaLR 0.03
- P51A (p.Pro51Ala), ExAC rs751621424, TOPMed rs751621424, gnomAD rs751621424, REVEL 0.03, CADD 18.90, Uncertain significance, not specified
- P51H (p.Pro51His), ExAC rs755115250, TOPMed rs755115250, REVEL 0.06, CADD 22.80
- P51P (p.Pro51Pro), rs779379020, gnomAD 19-48955753-T-C, CADD 9.46, SIFT 0.00
- Q52H (p.Gln52His), NCI-TCGA Cosmic COSV5317, NCI-TCGA Cosmic COSV9950, cosmic curated COSV99509, MetaLR 0.10, MetaSVM -0.98, Variant assessed as somatic; moderate impact.
- D53N (p.Asp53Asn), TOPMed rs2038102794, MetaLR 0.24, MetaSVM -0.91
- D53G (p.Asp53Gly), gnomAD 19-48955758-A-G, REVEL 0.13, MetaLR 0.19
- A54E (p.Ala54Glu), ExAC rs753272713, TOPMed rs753272713, gnomAD rs753272713, REVEL 0.03, CADD 15.80
- A54G (p.Ala54Gly), ExAC rs753272713, TOPMed rs753272713, gnomAD rs753272713, REVEL 0.02, CADD 17.30
- A54P (p.Ala54Pro), 1000Genomes rs200153051, ExAC rs200153051, TOPMed rs200153051, gnomAD rs200153051, REVEL 0.02, CADD 15.00
- A54S (p.Ala54Ser), 1000Genomes rs200153051, ExAC rs200153051, TOPMed rs200153051, gnomAD rs200153051, REVEL 0.01, CADD 14.60
- A54V (p.Ala54Val), ExAC rs753272713, TOPMed rs753272713, gnomAD rs753272713, REVEL 0.02, CADD 18.10
- A54A (p.Ala54Ala), gnomAD 19-48955762-G-T, CADD 6.43, SIFT 0.00
- S55Y (p.Ser55Tyr), gnomAD 19-48955764-C-A, REVEL 0.10, MetaLR 0.14
- S55S (p.Ser55Ser), rs2038103486, gnomAD 19-48955765-C-T, CADD 14.80, SIFT 0.00
Public BAX analysis runs
- BAX analysis run — BAX (431 variants) — completed 2026-08-22