APOL1 (Apolipoprotein L1) variants and mutations
APOL1 (also known as Apolipoprotein L1) is a human protein-coding gene encoding an apolipoprotein L1 protein. It contributes to innate immunity and can form membrane pores that kill certain trypanosomes. The G1 and G2 risk variants provide protection against some African trypanosomes but markedly increase susceptibility to several forms of kidney disease in individuals carrying two risk alleles. This analysis covers 747 APOL1 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes focal segmental glomerulosclerosis, sporadic idiopathic steroid-resistant nephrotic syndrome, and glomerulonephritis. Example APOL1 variants include M1?, E2A, and E2D.
Variant analysis overview
- Gene: APOL1
- Protein: Apolipoprotein L1
- UniProt accession: O14791
- Organism: Homo sapiens
- Variants analyzed: 747
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 569 unspecified-consequence records; 105 missense variants; 46 synonymous variants; 3 splice-region variants; 15 frameshift variants; 6 stop-gained variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 595 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: focal segmental glomerulosclerosis, sporadic idiopathic steroid-resistant nephrotic syndrome, glomerulonephritis, chronic kidney disease, kidney disorder, Proteinuria, kidney failure, phosphorus metabolism disease, Nephrotic range proteinuria, secondary hyperparathyroidism of renal origin, hypertensive heart disease, mineral metabolism disease.
Protein structure and variant hotspots
- Protein features: 3 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable APOL1 variants
Examples include M1?, E2A, E2D, E2G, E2E, G3*, G3A, A4D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1334345255, cosmic curated COSV10004, NCI-TCGA Cosmic COSV1000, cosmic curated COSV10739, AlphaMissense 0.16, MetaLR 0.02, Variant assessed as somatic; high impact.
- E2A (p.Glu2Ala), Ensembl rs2015814140
- E2D (p.Glu2Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E2G (p.Glu2Gly), gnomAD 22-36254960-A-G, REVEL 0.07, MetaLR 0.04
- E2E (p.Glu2Glu), gnomAD 22-36254961-G-A, CADD 0.89
- G3* (p.Gly3Ter), gnomAD 22-36254962-G-T, CADD 32.00
- G3A (p.Gly3Ala), gnomAD 22-36254963-G-C, REVEL 0.06, MetaLR 0.07
- A4D (p.Ala4Asp), ExAC rs781164721, TOPMed rs781164721, gnomAD rs781164721, REVEL 0.13, CADD 0.33
- A4G (p.Ala4Gly), ExAC rs781164721, TOPMed rs781164721, gnomAD rs781164721, REVEL 0.03, CADD 4.04
- A4P (p.Ala4Pro), ExAC rs757047440, TOPMed rs757047440, gnomAD rs757047440, REVEL 0.09, CADD 6.53
- A4T (p.Ala4Thr), cosmic curated COSV10004, ExAC rs757047440, TOPMed rs757047440, gnomAD rs757047440, REVEL 0.04, CADD 6.08
- L6L (p.Leu6Leu), gnomAD 22-36254973-G-A, CADD 1.58
- L7P (p.Leu7Pro), Ensembl rs1556624040, REVEL 0.13, CADD 20.90
- L7R (p.Leu7Arg), Ensembl rs1556624040, REVEL 0.10, CADD 20.50
- L7V (p.Leu7Val), ESP rs372661836, ExAC rs372661836, TOPMed rs372661836, gnomAD rs372661836, REVEL 0.04, CADD 14.60, Uncertain significance, not specified
- L7S (p.Leu7Ser), rs2015814537, gnomAD 22-36254968-GCTTT, CADD 18.80
- L7L (p.Leu7Leu), rs1241350129, gnomAD 22-36254976-G-A, CADD 5.77
- R8I (p.Arg8Ile), 1000Genomes rs769299217, ExAC rs769299217, gnomAD rs769299217, REVEL 0.10, CADD 15.90, Uncertain significance
- R8K (p.Arg8Lys), rs769299217, ClinGen CA10208464, cosmic curated COSV59868, ClinVar RCV001944069, REVEL 0.06, CADD 12.00, Uncertain significance, not provided
- R8W (p.Arg8Trp), gnomAD 22-36254899-A-T, CADD 8.69, SIFT 0.00
- R8S (p.Arg8Ser), gnomAD 22-36254901-G-T, CADD 6.52, SIFT 0.00
- R8R (p.Arg8Arg), gnomAD 22-36254901-G-A, CADD 4.25
- R8G (p.Arg8Gly), rs758884541, gnomAD 22-36254940-GA-G, CADD 16.50
- R8T (p.Arg8Thr), rs1391715334, gnomAD 22-36254942-G-C, MetaLR 0.01, MetaSVM -0.96
- V9D (p.Val9Asp), ExAC rs748732912, TOPMed rs748732912, gnomAD rs748732912, REVEL 0.22, CADD 12.80
- V9I (p.Val9Ile), rs1028842274, NCI-TCGA Cosmic COSV5986, cosmic curated COSV59869, TOPMed rs1028842274, REVEL 0.05, CADD 0.07, Variant assessed as somatic; moderate impact.
- V9V (p.Val9Val), rs562686037, gnomAD 22-36253986-G-A, CADD 2.26
- S10F (p.Ser10Phe), rs199650512, ClinGen CA10208467, cosmic curated COSV59869, ClinVar RCV002918944, REVEL 0.10, CADD 0.36, Uncertain significance, not provided
- S10P (p.Ser10Pro), gnomAD rs1474598075
- S10N (p.Ser10Asn), rs1272952121, gnomAD 22-36253976-G-A, MetaLR 0.01, MetaSVM -0.93
- S10R (p.Ser10Arg), gnomAD 22-36253977-C-A, MetaLR 0.01, MetaSVM -0.93
- S10T (p.Ser10Thr), rs2015811112, gnomAD 22-36254903-G-C, CADD 0.63, SIFT 0.94
- S10S (p.Ser10Ser), rs746798061, gnomAD 22-36254904-C-T, CADD 0.82
- S10C (p.Ser10Cys), gnomAD 22-36254980-GTC-G, CADD 18.10
- V11L (p.Val11Leu), gnomAD rs1409738915, REVEL 0.03, CADD 12.70
- V11V (p.Val11Val), gnomAD 22-36254988-C-A, CADD 1.42
- L12F (p.Leu12Phe), cosmic curated COSV10518, REVEL 0.08, CADD 16.20
- L12I (p.Leu12Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L12P (p.Leu12Pro), gnomAD rs1398634941, REVEL 0.20, CADD 12.00
- L12V (p.Leu12Val), TOPMed rs1216633344
- L12L (p.Leu12Leu), rs781603527, gnomAD 22-36253990-T-C, CADD 0.29
- C13A (p.Cys13Ala), gnomAD 22-36254926-TC-T, CADD 1.77
- C13S (p.Cys13Ser), gnomAD 22-36254929-T-A, CADD 21.90, SIFT 0.00
- C13G (p.Cys13Gly), gnomAD 22-36254929-T-G, CADD 5.94, SIFT 0.00
- C13R (p.Cys13Arg), rs200136783, gnomAD 22-36254947-T-C, MetaLR 0.01, MetaSVM -0.92
- C13Y (p.Cys13Tyr), rs1347251581, gnomAD 22-36254948-G-A, MetaLR 0.01, MetaSVM -0.93
- C13C (p.Cys13Cys), rs1319708414, gnomAD 22-36254994-C-T, CADD 5.73
- I14T (p.Ile14Thr), gnomAD 22-36254996-T-C, REVEL 0.09, MetaLR 0.04
- I14I (p.Ile14Ile), gnomAD 22-36254997-C-T, CADD 7.62
- W15* (p.Trp15Ter), cosmic curated COSV10518, CADD 41.00
- W15C (p.Trp15Cys), gnomAD rs2015905635, REVEL 0.16, CADD 28.80
- W15L (p.Trp15Leu), gnomAD 22-36254999-G-T, REVEL 0.09, MetaLR 0.07
- M16I (p.Met16Ile), ESP rs368330805, ExAC rs368330805, TOPMed rs368330805, gnomAD rs368330805, REVEL 0.03, CADD 0.08, Uncertain significance, not specified
- S17N (p.Ser17Asn), gnomAD rs1192104843
- S17R (p.Ser17Arg), ESP rs146915099, ExAC rs146915099, TOPMed rs146915099, gnomAD rs146915099, REVEL 0.17, CADD 0.00
- S17Y (p.Ser17Tyr), gnomAD 22-36254912-C-A, CADD 1.28, SIFT 0.00
- S17F (p.Ser17Phe), rs1272930886, gnomAD 22-36254912-C-T, CADD 1.78, SIFT 0.00
- S17P (p.Ser17Pro), gnomAD 22-36254922-CT-C, CADD 0.83
- S17C (p.Ser17Cys), rs1399632983, gnomAD 22-36254927-C-G, CADD 9.84, SIFT 0.00
- S17L (p.Ser17Leu), rs767905069, gnomAD 22-36254933-C-T, CADD 1.43, SIFT 0.06
- S17* (p.Ser17Ter), gnomAD 22-36254933-C-A, CADD 0.85
- S17T (p.Ser17Thr), rs747442118, gnomAD 22-36254950-AG-A, CADD 16.40
- S17S (p.Ser17Ser), rs185067088, gnomAD 22-36254952-C-T, CADD 1.72
- S17G (p.Ser17Gly), gnomAD 22-36257087-A-G, REVEL 0.04, MetaLR 0.03
- A18T (p.Ala18Thr), ExAC rs762049462, TOPMed rs762049462, gnomAD rs762049462, REVEL 0.02, CADD 2.55
- A18V (p.Ala18Val), TOPMed rs1170219039, gnomAD rs1170219039, REVEL 0.07, CADD 0.83
- A18A (p.Ala18Ala), rs767548013, gnomAD 22-36257092-A-G, CADD 2.50
- L19F (p.Leu19Phe), gnomAD rs202025045, REVEL 0.12, CADD 15.50
- L19H (p.Leu19His), ExAC rs750385777, gnomAD rs750385777, REVEL 0.16, CADD 14.60
- L19P (p.Leu19Pro), cosmic curated COSV10739
- L19I (p.Leu19Ile), gnomAD 22-36257093-C-A, REVEL 0.07, MetaLR 0.08
- F20L (p.Phe20Leu), TOPMed rs2015906589, REVEL 0.10, CADD 2.52
- F20S (p.Phe20Ser), 1000Genomes rs201933483, TOPMed rs201933483, gnomAD rs201933483, REVEL 0.23, CADD 6.09
- F20V (p.Phe20Val), gnomAD 22-36253969-T-G, MetaLR 0.01, MetaSVM -0.98
- F20F (p.Phe20Phe), rs1163460752, gnomAD 22-36257098-C-T, CADD 2.41
- L21I (p.Leu21Ile), cosmic curated COSV10004
- L21P (p.Leu21Pro), gnomAD rs1326772470, REVEL 0.22, CADD 20.00
- L21L (p.Leu21Leu), rs540252132, gnomAD 22-36257101-T-G, CADD 1.72
- V23M (p.Val23Met), TOPMed rs1439034159, gnomAD rs1439034159, REVEL 0.15, CADD 17.10
- V23A (p.Val23Ala), gnomAD 22-36257106-T-C, REVEL 0.09, MetaLR 0.03
- V23V (p.Val23Val), rs1187821030, gnomAD 22-36257107-G-A, CADD 0.40
- G24R (p.Gly24Arg), Ensembl rs1603481984
- G24E (p.Gly24Glu), gnomAD 22-36257109-G-A, REVEL 0.06, MetaLR 0.04
- V25M (p.Val25Met), TOPMed rs1300964795, gnomAD rs1300964795, REVEL 0.08, CADD 13.90
- R26K (p.Arg26Lys), TOPMed rs1247964955, gnomAD rs1247964955, REVEL 0.04, CADD 16.40
- p.Arg25dup, gnomAD 22-36254934-A-AAG, CADD 1.20
- R26R (p.Arg26Arg), rs779927551, gnomAD 22-36257116-G-A, CADD 1.91
- R26S (p.Arg26Ser), gnomAD 22-36257116-G-T, REVEL 0.12, MetaLR 0.07
- A27V (p.Ala27Val), Ensembl rs2015907707, REVEL 0.11, CADD 12.00
- A27A (p.Ala27Ala), rs2015907805, gnomAD 22-36257119-A-G, CADD 3.73
- E28D (p.Glu28Asp), Ensembl rs2015907886
- E28E (p.Glu28Glu), gnomAD 22-36257122-G-A, CADD 1.05
- E29K (p.Glu29Lys), NCI-TCGA Cosmic COSV5986, cosmic curated COSV59869, TOPMed rs2015907989, REVEL 0.02, CADD 8.72, Variant assessed as somatic; moderate impact.
- E29Q (p.Glu29Gln), gnomAD 22-36257123-G-C, REVEL 0.02, MetaLR 0.03
- A30G (p.Ala30Gly), TOPMed rs1271868830, gnomAD rs1271868830, REVEL 0.03, CADD 15.30, Uncertain significance, not specified
- A30V (p.Ala30Val), rs1227980527, gnomAD 22-36257126-GC-G, CADD 16.80
- A30A (p.Ala30Ala), rs1569533819, gnomAD 22-36257128-T-A, CADD 5.28
- G31A (p.Gly31Ala), TOPMed rs2015908447, REVEL 0.06, CADD 3.74
- G31R (p.Gly31Arg), gnomAD rs1336821136, REVEL 0.10, CADD 16.10
- A32G (p.Ala32Gly), ExAC rs753380461, TOPMed rs753380461, gnomAD rs753380461, REVEL 0.06, CADD 0.00
- A32T (p.Ala32Thr), gnomAD rs1197491625, REVEL 0.02, CADD 0.15
- A32V (p.Ala32Val), rs753380461, NCI-TCGA Cosmic COSV5986, cosmic curated COSV59869, ExAC rs753380461, REVEL 0.06, CADD 0.00, Variant assessed as somatic; moderate impact.
- A32A (p.Ala32Ala), rs754633492, gnomAD 22-36257134-G-A, CADD 2.20
- R33=, rs752361906, NCI-TCGA Cosmic COSV1000, cosmic curated COSV10004, ExAC rs752361906, AlphaMissense 0.30, MetaLR 0.02, Variant assessed as somatic; low impact.
- R33G (p.Arg33Gly), ExAC rs778581142, gnomAD rs778581142, REVEL 0.08, CADD 14.00
- R33S (p.Arg33Ser), ExAC rs752361906, gnomAD rs752361906, REVEL 0.10, AlphaMissense 0.30
- R33K (p.Arg33Lys), gnomAD 22-36257136-G-A, REVEL 0.04, MetaLR 0.02
- V34M (p.Val34Met), ExAC rs757839437, gnomAD rs757839437, REVEL 0.14, CADD 11.60
- V34V (p.Val34Val), rs777297128, gnomAD 22-36257322-G-A, CADD 0.24
- Q35* (p.Gln35Ter), ExAC rs746312873, TOPMed rs746312873, gnomAD rs746312873, CADD 25.30, Uncertain significance
- Q35K (p.Gln35Lys), rs746312873, ClinGen CA411399869, ClinVar RCV001900484, ExAC rs746312873, REVEL 0.04, CADD 0.00, Uncertain significance, not provided
- Q35P (p.Gln35Pro), ESP rs367706870, ExAC rs367706870, gnomAD rs367706870
- Q35E (p.Gln35Glu), gnomAD 22-36254914-C-G, CADD 0.83, SIFT 0.00
- Q35H (p.Gln35His), rs200230037, gnomAD 22-36254916-A-T, CADD 0.70, SIFT 0.00
- Q35Q (p.Gln35Gln), rs200230037, gnomAD 22-36254916-A-G, CADD 4.89
- Q36* (p.Gln36Ter), ESP rs149411999, TOPMed rs149411999, CADD 25.40
- Q36K (p.Gln36Lys), gnomAD 22-36257326-C-A, REVEL 0.01, MetaLR 0.03
- Q36R (p.Gln36Arg), gnomAD 22-36257327-A-G, REVEL 0.07, MetaLR 0.03
- Q36Q (p.Gln36Gln), gnomAD 22-36257328-A-G, CADD 0.28
- N37K (p.Asn37Lys), 1000Genomes rs555288384, ExAC rs555288384, TOPMed rs555288384, gnomAD rs555288384, REVEL 0.11, CADD 12.40
- N37N (p.Asn37Asn), rs555288384, gnomAD 22-36257331-C-T, CADD 1.15
- V38A (p.Val38Ala), TOPMed rs2015917132
- V38F (p.Val38Phe), 1000Genomes rs200488315, ExAC rs200488315, TOPMed rs200488315, gnomAD rs200488315, REVEL 0.13, CADD 0.77, Uncertain significance
- V38I (p.Val38Ile), rs200488315, ClinGen CA10208528, NCI-TCGA Cosmic COSV5986, cosmic curated COSV59869, REVEL 0.06, CADD 0.10, Uncertain significance, not specified
- P39A (p.Pro39Ala), NCI-TCGA Cosmic COSV5986, NCI-TCGA Cosmic COSV5987, cosmic curated COSV59870, REVEL 0.04, CADD 8.48, Variant assessed as somatic; moderate impact.
- P39L (p.Pro39Leu), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10004, Variant assessed as somatic; moderate impact.
- P39S (p.Pro39Ser), NCI-TCGA Cosmic COSV5986, cosmic curated COSV59869, NCI-TCGA Cosmic COSV5987, Variant assessed as somatic; moderate impact.
- P39R (p.Pro39Arg), gnomAD 22-36254918-C-G, CADD 0.16, SIFT 0.00
- P39H (p.Pro39His), gnomAD 22-36254918-C-A, CADD 0.20, SIFT 0.00
- P39P (p.Pro39Pro), rs769307148, gnomAD 22-36254919-C-T, CADD 5.29
- S40I (p.Ser40Ile), rs1412411332, ClinGen CA411400015, ClinVar RCV004417850, gnomAD rs1412411332, REVEL 0.14, CADD 0.00, Uncertain significance, not specified
- S40R (p.Ser40Arg), ExAC rs769154675, TOPMed rs769154675, gnomAD rs769154675, REVEL 0.05, CADD 0.00
- S40T (p.Ser40Thr), gnomAD 22-36257339-G-C, REVEL 0.10, MetaLR 0.02
- G41A (p.Gly41Ala), gnomAD 22-36257342-G-C, REVEL 0.05, MetaLR 0.03
- G41G (p.Gly41Gly), rs774646849, gnomAD 22-36257343-G-A, CADD 1.00
- T42A (p.Thr42Ala), TOPMed rs2015917535, REVEL 0.07, CADD 4.16
- T42I (p.Thr42Ile), TOPMed rs909415556, gnomAD rs909415556, REVEL 0.19, CADD 14.70
- T42T (p.Thr42Thr), gnomAD 22-36253983-T-G, CADD 3.01
- T42P (p.Thr42Pro), rs192505025, gnomAD 22-36254905-A-C, CADD 3.81, SIFT 0.00
- T42K (p.Thr42Lys), gnomAD 22-36257345-C-A, REVEL 0.19, MetaLR 0.02
- D43G (p.Asp43Gly), ExAC rs748410527, TOPMed rs748410527, gnomAD rs748410527, REVEL 0.12, CADD 0.00
- D43Y (p.Asp43Tyr), rs187922489, gnomAD 22-36254953-G-T, MetaLR 0.01, MetaSVM -0.95
- D43N (p.Asp43Asn), rs187922489, gnomAD 22-36254953-G-A, MetaLR 0.01, MetaSVM -0.93
- D43H (p.Asp43His), gnomAD 22-36254953-G-C, MetaLR 0.01, MetaSVM -0.92
- D43E (p.Asp43Glu), gnomAD 22-36254955-C-A, MetaLR 0.01, MetaSVM -0.96
- D43D (p.Asp43Asp), rs368745227, gnomAD 22-36254955-C-T, CADD 3.40
- T44A (p.Thr44Ala), ExAC rs773315492, TOPMed rs773315492, gnomAD rs773315492, REVEL 0.08, CADD 0.17
- G45E (p.Gly45Glu), NCI-TCGA TCGA novel, REVEL 0.09, CADD 4.14, Variant assessed as somatic; moderate impact.
- G45R (p.Gly45Arg), cosmic curated COSV10518
- D46E (p.Asp46Glu), TOPMed rs1445072135
- D46G (p.Asp46Gly), 1000Genomes rs144963144, ESP rs144963144, ExAC rs144963144, TOPMed rs144963144, REVEL 0.11, CADD 11.10, Uncertain significance, not specified; not provided
- D46V (p.Asp46Val), 1000Genomes rs144963144, ESP rs144963144, ExAC rs144963144, TOPMed rs144963144, Uncertain significance
- D46Y (p.Asp46Tyr), Ensembl rs2015918066
- P47L (p.Pro47Leu), gnomAD rs1181319554, REVEL 0.09, CADD 0.04
- Q48* (p.Gln48Ter), NCI-TCGA TCGA novel, TOPMed rs2015918617, CADD 27.80, Variant assessed as somatic; high impact.
- Q48Q (p.Gln48Gln), rs2146298770, gnomAD 22-36257364-A-G, CADD 2.04
- S49N (p.Ser49Asn), cosmic curated COSV10004, REVEL 0.02, CADD 1.42
- K50E (p.Lys50Glu), TOPMed rs2015918869, REVEL 0.03, CADD 3.96
- K50N (p.Lys50Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K50* (p.Lys50Ter), rs769895792, gnomAD 22-36257366-G-GT, CADD 14.60
- K50T (p.Lys50Thr), rs775578609, gnomAD 22-36257368-A-ACT, CADD 11.70
- P51S (p.Pro51Ser), Ensembl rs2015919061
- P51A (p.Pro51Ala), gnomAD 22-36257371-C-G, REVEL 0.05, MetaLR 0.03
- P51P (p.Pro51Pro), gnomAD 22-36257373-C-T, CADD 0.19
- L52F (p.Leu52Phe), Ensembl rs2146298785, REVEL 0.04, CADD 13.60
- L52H (p.Leu52His), TOPMed rs2015919157, gnomAD rs2015919157, REVEL 0.06, CADD 18.10
- L52L (p.Leu52Leu), rs370479891, gnomAD 22-36257376-C-T, CADD 3.61
- G53S (p.Gly53Ser), rs766338763, ClinGen CA10208537, ClinVar RCV003090492, ExAC rs766338763, REVEL 0.12, CADD 0.45, Uncertain significance, not provided
- G53G (p.Gly53Gly), rs2015919487, gnomAD 22-36257379-T-C, CADD 2.33
- D54Y (p.Asp54Tyr), Ensembl rs2146298810
- W55C (p.Trp55Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W55G (p.Trp55Gly), Ensembl rs2146298817, REVEL 0.09, CADD 0.00
- A56T (p.Ala56Thr), gnomAD rs1418883562, REVEL 0.10, CADD 0.04
- A56V (p.Ala56Val), ExAC rs776494978, TOPMed rs776494978, gnomAD rs776494978, REVEL 0.03, CADD 7.66, Uncertain significance, not provided
- A57P (p.Ala57Pro), TOPMed rs1262713437, REVEL 0.07, CADD 16.50
- G58D (p.Gly58Asp), ExAC rs759271800, TOPMed rs759271800, gnomAD rs759271800, REVEL 0.10, CADD 0.53, Uncertain significance, not specified
- G58V (p.Gly58Val), ExAC rs759271800, TOPMed rs759271800, gnomAD rs759271800, REVEL 0.12, CADD 11.60, Uncertain significance
- G58G (p.Gly58Gly), rs765023392, gnomAD 22-36257394-C-T, CADD 3.86
- G58W (p.Gly58Trp), gnomAD 22-36259677-G-T, CADD 4.37, SIFT 0.00
- G58A (p.Gly58Ala), rs949454382, gnomAD 22-36259678-G-C, CADD 2.60, SIFT 0.00
Public APOL1 analysis runs
- APOL1 analysis run — APOL1 (747 variants) — completed 2026-08-21