COL4A5 (Collagen alpha-5(IV) chain) variants and mutations
COL4A5 (also known as Collagen alpha-5(IV) chain) is a human protein-coding gene encoding a collagen alpha-5(IV) chain protein. It is essential for the alpha3-alpha4-alpha5 type IV collagen network that gives glomerular and cochlear basement membranes their mature mechanical properties. Pathogenic variants cause X-linked Alport syndrome, with progressive kidney disease, hearing loss, and characteristic ocular findings. This analysis covers 2,801 COL4A5 variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes X-linked Alport syndrome, Alport syndrome, and Dupuytren Contracture. Example COL4A5 variants include M1I, M1K, and M1V.
Variant analysis overview
- Gene: COL4A5
- Protein: Collagen alpha-5(IV) chain
- UniProt accession: P29400
- Organism: Homo sapiens
- Variants analyzed: 2801
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 2,700 unspecified-consequence records; 54 missense variants; 34 synonymous variants; 6 splice-region variants; 1 stop-gained variants; 3 frameshift variants; 3 substitution
- Prediction scores: 1,818 variants have prediction scores (65% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: X-linked Alport syndrome, Alport syndrome, Dupuytren Contracture, hereditary disease, Hematuria, Proteinuria, nephrotic syndrome, focal segmental glomerulosclerosis, autosomal dominant Alport syndrome, Skin ulcer, eye disorder, Microscopic hematuria.
Protein structure and variant hotspots
- Protein features: 1 domains; 1 post-translational modification sites.
- Structural context: 331 variants have structural context.
- PTM context: 1 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, ClinGen, MaveDB, LitVar.
Notable COL4A5 variants
Examples include M1I, M1K, M1V, L3V, L3M, L3L, R4C, R4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2523832524, ClinGen CA413905873, ClinVar RCV003579063, Pathogenic, not provided
- M1K (p.Met1Lys), rs1569469409, ClinGen CA413905868, ClinVar RCV002262191, MetaLR 0.73, MetaSVM 0.55, Pathogenic, X-linked Alport syndrome
- M1V (p.Met1Val), rs104886050, ClinGen CA258193, ClinVar RCV000021092, ClinVar RCV001381883, MetaLR 0.65, MetaSVM 0.53, Pathogenic, not provided; X-linked Alport syndrome
- L3V (p.Leu3Val), TOPMed rs1026787719, gnomAD rs1026787719, REVEL 0.17, MetaLR 0.44
- L3M (p.Leu3Met), gnomAD X-108440132-C-A, REVEL 0.25, MetaLR 0.46
- L3L (p.Leu3Leu), rs763257714, gnomAD X-108440134-G-A, CADD 13.30
- R4C (p.Arg4Cys), NCI-TCGA Cosmic COSV5787, cosmic curated COSV57870, Variant assessed as somatic; moderate impact.
- R4S (p.Arg4Ser), rs2523832601, ClinVar RCV004587780, Uncertain significance, not specified
- R4H (p.Arg4His), gnomAD X-108440136-G-A, REVEL 0.32, MetaLR 0.39
- G5* (p.Gly5Ter), Ensembl rs104886049
- G5A (p.Gly5Ala), gnomAD X-108440139-G-C, REVEL 0.35, MetaLR 0.38
- G5G (p.Gly5Gly), gnomAD X-108440140-A-T, CADD 15.50
- V6L (p.Val6Leu), gnomAD X-108440141-G-C, REVEL 0.42, MetaLR 0.40
- V6A (p.Val6Ala), gnomAD X-108440142-T-C, REVEL 0.27, MetaLR 0.42
- V6V (p.Val6Val), gnomAD X-108440143-C-T, CADD 13.90
- S7I (p.Ser7Ile), gnomAD X-108440145-G-T, REVEL 0.21, MetaLR 0.42
- L8M (p.Leu8Met), cosmic curated COSV57882
- L8R (p.Leu8Arg), Ensembl rs2064372077
- L8P (p.Leu8Pro), gnomAD X-108440148-T-C, REVEL 0.58, MetaLR 0.50
- A9P (p.Ala9Pro), gnomAD rs1199972451, REVEL 0.45, MetaLR 0.53
- A9S (p.Ala9Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A9T (p.Ala9Thr), cosmic curated COSV10811
- A10V (p.Ala10Val), gnomAD X-108440154-C-T, REVEL 0.38, MetaLR 0.39
- A10A (p.Ala10Ala), gnomAD X-108440155-C-T, CADD 15.10
- G11C (p.Gly11Cys), ESP rs370313574, TOPMed rs370313574, gnomAD rs370313574, REVEL 0.23, MetaLR 0.43, Uncertain significance, X-linked Alport syndrome
- G11D (p.Gly11Asp), ExAC rs769068931, TOPMed rs769068931, gnomAD rs769068931, REVEL 0.53, MetaLR 0.49, Uncertain significance, Inborn genetic diseases
- G11S (p.Gly11Ser), cosmic curated COSV57860, ESP rs370313574, TOPMed rs370313574, gnomAD rs370313574, REVEL 0.35, MetaLR 0.36, Uncertain significance
- G11V (p.Gly11Val), rs2523832885, ClinGen CA915940747, ClinVar RCV002928907, REVEL 0.51, MetaLR 0.40, Uncertain significance, Inborn genetic diseases
- G11R (p.Gly11Arg), gnomAD X-108440156-G-C, REVEL 0.48, MetaLR 0.52
- G11G (p.Gly11Gly), rs773115274, gnomAD X-108440158-C-T, CADD 15.20
- L12M (p.Leu12Met), TOPMed rs199693699, REVEL 0.28, MetaLR 0.51, Uncertain significance, Inborn genetic diseases
- L14V (p.Leu14Val), rs760570519, ClinGen CA334149967, ClinVar RCV001195225, ClinVar RCV001828607, REVEL 0.20, MetaLR 0.39, Uncertain significance, not specified; X-linked Alport syndrome
- L14L (p.Leu14Leu), rs760570519, gnomAD X-108440165-T-C, CADD 14.80
- L15V (p.Leu15Val), Ensembl rs2147447874
- A16P (p.Ala16Pro), rs1463628237, ClinGen CA413905958, ClinVar RCV002703734, AlphaMissense 0.11, MetaLR 0.64, Uncertain significance, Inborn genetic diseases
- A16S (p.Ala16Ser), gnomAD rs1463628237, REVEL 0.35, AlphaMissense 0.11
- A16D (p.Ala16Asp), gnomAD X-108440172-C-A, REVEL 0.53, MetaLR 0.66
- A16A (p.Ala16Ala), gnomAD X-108440173-C-A, CADD 15.20
- L17Q (p.Leu17Gln), gnomAD rs1299791698, REVEL 0.59, MetaLR 0.48
- L17R (p.Leu17Arg), gnomAD rs1299791698, REVEL 0.60, MetaLR 0.48
- L17L (p.Leu17Leu), gnomAD X-108440174-C-T, CADD 14.00
- S18R (p.Ser18Arg), Ensembl rs1308265114
- L19F (p.Leu19Phe), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10008, Variant assessed as somatic; moderate impact.
- L19P (p.Leu19Pro), cosmic curated COSV10964
- L19V (p.Leu19Val), rs2523833160, ClinGen CA413905977, ClinVar RCV004437450, Uncertain significance, Inborn genetic diseases
- L19I (p.Leu19Ile), gnomAD X-108440180-C-A, REVEL 0.26, MetaLR 0.48
- L19L (p.Leu19Leu), rs766114864, gnomAD X-108440182-T-C, CADD 13.70
- W20* (p.Trp20Ter), rs2523833248, ClinGen CA413905987, ClinVar RCV003387637, ClinVar RCV005104267, Pathogenic
- W20L (p.Trp20Leu), cosmic curated COSV10008, REVEL 0.29, MetaLR 0.44
- W20R (p.Trp20Arg), rs753738687, ExAC rs753738687, TOPMed rs753738687, gnomAD rs753738687, REVEL 0.35, MetaLR 0.43, Uncertain significance, not provided
- W20S (p.Trp20Ser), gnomAD rs1283614139, REVEL 0.32, MetaLR 0.50
- G21E (p.Gly21Glu), NCI-TCGA Cosmic COSV5786, cosmic curated COSV57865, REVEL 0.47, MetaLR 0.52, Variant assessed as somatic; moderate impact.
- G21G (p.Gly21Gly), gnomAD X-108440188-G-C, CADD 14.50
- Q22H (p.Gln22His), cosmic curated COSV57867
- Q22L (p.Gln22Leu), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10008, Variant assessed as somatic; moderate impact.
- Q22Q (p.Gln22Gln), rs1226348837, gnomAD X-108440191-G-A, CADD 13.50
- P23T (p.Pro23Thr), gnomAD X-108440192-C-A, REVEL 0.41, MetaLR 0.38
- P23S (p.Pro23Ser), gnomAD X-108440192-C-T, REVEL 0.34, MetaLR 0.37
- A24T (p.Ala24Thr), gnomAD rs1216405231, REVEL 0.30, MetaLR 0.46
- A24E (p.Ala24Glu), gnomAD X-108440196-C-A, REVEL 0.45, MetaLR 0.41
- A24V (p.Ala24Val), gnomAD X-108440196-C-T, REVEL 0.43, MetaLR 0.45
- E25G (p.Glu25Gly), Ensembl rs2064373731, REVEL 0.49, MetaLR 0.62
- E25K (p.Glu25Lys), cosmic curated COSV57880
- E25Q (p.Glu25Gln), cosmic curated COSV10811
- E25E (p.Glu25Glu), gnomAD X-108440200-G-A, CADD 14.00
- A26T (p.Ala26Thr), rs1276860807, ClinGen CA413906024, ClinVar RCV002134224, gnomAD rs1276860807, REVEL 0.34, MetaLR 0.65, Likely benign, not provided
- A26D (p.Ala26Asp), gnomAD X-108440202-C-A, REVEL 0.45, MetaLR 0.65
- A26A (p.Ala26Ala), gnomAD X-108440203-T-C, CADD 16.40
- A27=, rs1569469478, NCI-TCGA Cosmic COSV1000, NCI-TCGA Cosmic COSV5787, Uncertain significance
- A27V (p.Ala27Val), Ensembl rs2147448155, REVEL 0.47, MetaLR 0.62
- A27A (p.Ala27Ala), rs1569469478, gnomAD X-108440206-G-A, CADD 23.70
- A28S (p.Ala28Ser), rs869025333, ClinGen CA351668, ClinVar RCV000207631, Ensembl rs869025333, AlphaMissense 0.30, MetaLR 0.40, Pathogenic, X-linked Alport syndrome
- A28T (p.Ala28Thr), rs869025333, ClinGen CA413908399, ClinVar RCV001768671, Ensembl rs869025333, AlphaMissense 0.30, MetaLR 0.40, Uncertain significance, not provided
- A28D (p.Ala28Asp), gnomAD X-108539747-C-A, REVEL 0.45, MetaLR 0.40
- C29* (p.Cys29Ter), Ensembl rs104886048
- C29F (p.Cys29Phe), gnomAD rs1215962616, REVEL 0.65, MetaLR 0.67
- C29S (p.Cys29Ser), NCI-TCGA Cosmic COSV6035, cosmic curated COSV60356, Variant assessed as somatic; moderate impact.
- C29Y (p.Cys29Tyr), gnomAD X-108539750-G-A, REVEL 0.64, MetaLR 0.67
- Y30* (p.Tyr30Ter), rs104886047, ClinGen CA258207, ClinVar RCV001381884, ClinVar RCV005042076, Pathogenic
- Y30C (p.Tyr30Cys), rs150305490, ClinGen CA10488361, ClinVar RCV000591165, ClinVar RCV001449946, REVEL 0.45, MetaLR 0.42, Conflicting interpretations, X-linked Alport syndrome; not provided
- Y30S (p.Tyr30Ser), 1000Genomes rs150305490, ESP rs150305490, ExAC rs150305490, TOPMed rs150305490, Likely benign
- Y30Y (p.Tyr30Tyr), rs104886047, gnomAD X-108539754-T-C, CADD 7.79
- G31W (p.Gly31Trp), rs2147657533, ClinGen CA413908501, ClinVar RCV001535977, ClinVar RCV005914517, AlphaMissense 0.60, MetaLR 0.71, Likely pathogenic, X-linked Alport syndrome
- G31G (p.Gly31Gly), gnomAD X-108539757-G-A, CADD 4.67
- P34L (p.Pro34Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P34R (p.Pro34Arg), gnomAD X-108539765-C-G, REVEL 0.31, CADD 21.60
- G35R (p.Gly35Arg), cosmic curated COSV60371, Uncertain significance, X-linked Alport syndrome
- S36* (p.Ser36Ter), rs759512115, ClinGen CA413908691, ClinVar RCV003337949, AlphaMissense 0.11, MetaLR 0.67, Pathogenic
- S36L (p.Ser36Leu), ExAC rs759512115, gnomAD rs759512115, REVEL 0.23, AlphaMissense 0.11
- S36S (p.Ser36Ser), rs1164696602, gnomAD X-108539772-A-G, CADD 11.30
- K37N (p.Lys37Asn), ExAC rs765197123, TOPMed rs765197123, gnomAD rs765197123, Likely benign
- K37K (p.Lys37Lys), rs765197123, gnomAD X-108539775-G-A, CADD 7.59
- C38F (p.Cys38Phe), rs1444428109, ClinGen CA413908751, ClinVar RCV002953857, ClinVar RCV005050669, REVEL 0.78, MetaLR 0.90, Uncertain significance, not provided; X-linked Alport syndrome
- C38G (p.Cys38Gly), gnomAD X-108539776-T-G, REVEL 0.71, CADD 25.70
- C38S (p.Cys38Ser), gnomAD X-108539777-G-C, REVEL 0.77, CADD 24.80
- D39E (p.Asp39Glu), gnomAD X-108539781-C-A, REVEL 0.34, CADD 22.00
- C40* (p.Cys40Ter), gnomAD X-108539784-C-A, CADD 32.00
- S41G (p.Ser41Gly), cosmic curated COSV10964
- S41R (p.Ser41Arg), cosmic curated COSV60358
- G42A (p.Gly42Ala), 1000Genomes rs767309553, gnomAD rs767309553, REVEL 0.36, MetaLR 0.79, Uncertain significance, not provided
- G42D (p.Gly42Asp), 1000Genomes rs767309553, gnomAD rs767309553, REVEL 0.71, MetaLR 0.86
- G42S (p.Gly42Ser), rs371351149, ClinGen CA334174303, ClinVar RCV002186039, ClinVar RCV004526192, REVEL 0.48, MetaLR 0.84, Conflicting interpretations, not provided; not specified; X-linked Alport syndrome
- G42G (p.Gly42Gly), rs2065509617, gnomAD X-108539790-C-T, CADD 6.75
- I43R (p.Ile43Arg), cosmic curated COSV60367
- I43T (p.Ile43Thr), NCI-TCGA Cosmic COSV6036, NCI-TCGA Cosmic COSV6037, cosmic curated COSV60373, TOPMed rs2065509701, REVEL 0.19, MetaLR 0.55, Uncertain significance, not provided
- K44N (p.Lys44Asn), rs752179960, cosmic curated COSV60361, ClinGen CA10488365, ClinVar RCV003008098, REVEL 0.53, MetaLR 0.73, Conflicting interpretations, not provided; Inborn genetic diseases
- K44R (p.Lys44Arg), gnomAD X-108539795-A-G, REVEL 0.42, CADD 23.30
- G45E (p.Gly45Glu), rs2524082406, ClinGen CA413908902, ClinVar RCV002632458, REVEL 0.92, MetaLR 0.96, Likely pathogenic, not provided
- G45R (p.Gly45Arg), rs2524082382, ClinGen CA413908901, ClinVar RCV002725746, Likely pathogenic, not provided
- G45V (p.Gly45Val), cosmic curated COSV60355
- G45G (p.Gly45Gly), gnomAD X-108539799-G-C, CADD 7.00
- E46* (p.Glu46Ter), rs762399773, ClinGen CA413908906, ClinVar RCV001381885, ExAC rs762399773, AlphaMissense 0.15, MetaLR 0.66, Pathogenic
- E46G (p.Glu46Gly), rs2147657717, ClinGen CA413908914, ClinVar RCV001420356, Ensembl rs2147657717, AlphaMissense 0.16, MetaLR 0.66, Likely benign, X-linked Alport syndrome
- E46K (p.Glu46Lys), rs762399773, ClinGen CA10488366, ClinVar RCV003556461, ExAC rs762399773, REVEL 0.56, AlphaMissense 0.15, Uncertain significance, not provided
- K47=, rs1486934440, NCI-TCGA Cosmic COSV6035, AlphaMissense 0.91, MetaLR 0.84, Variant assessed as somatic; low impact.
- K47N (p.Lys47Asn), rs1486934440, ClinGen CA413908930, ClinVar RCV003685971, gnomAD rs1486934440, REVEL 0.60, AlphaMissense 0.91, Uncertain significance, not provided
- K47T (p.Lys47Thr), cosmic curated COSV10440
- K47R (p.Lys47Arg), gnomAD X-108539800-GA-G, CADD 26.00
- K47Q (p.Lys47Gln), gnomAD X-108539803-A-C, REVEL 0.57, CADD 23.60
- K47K (p.Lys47Lys), rs1486934440, gnomAD X-108539805-G-A, AlphaMissense 0.91, MetaLR 0.84
- G48R (p.Gly48Arg), rs281874669, ClinVar RCV004594831, Ensembl rs281874669, AlphaMissense 0.98, MetaLR 0.98, Likely pathogenic, X-linked Alport syndrome
- G48G (p.Gly48Gly), rs749839339, gnomAD X-108559066-A-G, CADD 16.00
- E49D (p.Glu49Asp), rs2147722129, Ensembl rs2147722129, ClinGen CA413913839, ClinVar RCV001881270, REVEL 0.23, MetaLR 0.54, Uncertain significance, not provided
- E49G (p.Glu49Gly), rs1569486475, ClinGen CA413913816, ClinVar RCV000722967, ClinVar RCV004821285, AlphaMissense 0.24, MetaLR 0.82, Uncertain significance, X-linked Alport syndrome
- G51R (p.Gly51Arg), rs2147722151, ClinGen CA413913910, ClinVar RCV001378762, ClinVar RCV004577548, AlphaMissense 0.98, MetaLR 0.99, Likely pathogenic, not provided; X-linked Alport syndrome
- G51V (p.Gly51Val), ExAC rs755038747
- F52I (p.Phe52Ile), TOPMed rs2065867776, REVEL 0.18, MetaLR 0.56, Uncertain significance, X-linked Alport syndrome
- P53S (p.Pro53Ser), cosmic curated COSV60360
- P53P (p.Pro53Pro), rs1270497316, gnomAD X-108559081-A-G, CADD 10.50
- G54D (p.Gly54Asp), rs104886043, ClinGen CA255268, ClinVar RCV000011211, UniProt VAR 001914, AlphaMissense 0.98, MetaLR 0.99, Pathogenic, X-linked Alport syndrome
- G54R (p.Gly54Arg), rs2524162428, ClinGen CA413914082, ClinVar RCV003046789, ClinVar RCV003236595, Pathogenic/Likely pathogenic, not provided; X-linked Alport syndrome
- G54V (p.Gly54Val), rs104886043, ClinGen CA413914096, ClinVar RCV002033024, Ensembl rs104886043, AlphaMissense 0.98, MetaLR 0.99, Likely pathogenic, not provided
- L55W (p.Leu55Trp), rs779142914, ClinGen CA10488376, ClinVar RCV001952734, ExAC rs779142914, REVEL 0.77, MetaLR 0.87, Uncertain significance, not provided
- L55L (p.Leu55Leu), gnomAD X-108559087-G-A, CADD 9.34
- E56* (p.Glu56Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E56D (p.Glu56Asp), gnomAD X-108559090-A-T, REVEL 0.24, CADD 16.90
- G57R (p.Gly57Arg), TOPMed rs1490099715
- G57V (p.Gly57Val), cosmic curated COSV60368
- H58Y (p.His58Tyr), rs372805446, ClinGen CA10488377, cosmic curated COSV60359, ClinVar RCV003725029, REVEL 0.52, MetaLR 0.64, Conflicting interpretations, not provided; X-linked Alport syndrome
- H58N (p.His58Asn), gnomAD X-108559094-C-A, REVEL 0.43, CADD 17.20
- P59S (p.Pro59Ser), gnomAD X-108559097-C-T, REVEL 0.43, CADD 15.50
- G60E (p.Gly60Glu), cosmic curated COSV10465
- G60R (p.Gly60Arg), rs867718675, ClinGen CA334177338, cosmic curated COSV10811, ClinVar RCV003691583, AlphaMissense 0.98, MetaLR 0.99, Likely pathogenic, not provided
- L61* (p.Leu61Ter), rs2065868148, ClinGen CA413914424, ClinVar RCV001263607, Ensembl rs2065868148, Likely pathogenic
- L61F (p.Leu61Phe), rs1197962947, TOPMed rs1197962947, AlphaMissense 0.16, MetaLR 0.74, Variant assessed as somatic; moderate impact.
- L61S (p.Leu61Ser), gnomAD X-108559104-T-C, REVEL 0.59, CADD 23.40
- P62L (p.Pro62Leu), TOPMed rs1340602930, gnomAD rs1340602930, REVEL 0.71, MetaLR 0.92
- P62S (p.Pro62Ser), Ensembl rs2065868243
- G63E (p.Gly63Glu), NCI-TCGA Cosmic COSV6036, cosmic curated COSV60362, Variant assessed as somatic; moderate impact.
- G63R (p.Gly63Arg), cosmic curated COSV60356
- G63G (p.Gly63Gly), gnomAD X-108559111-A-G, CADD 14.30
- F64L (p.Phe64Leu), TOPMed rs2065868376
- P65S (p.Pro65Ser), cosmic curated COSV10465
- P65A (p.Pro65Ala), gnomAD X-108559115-C-G, REVEL 0.68, CADD 21.90
- P65Q (p.Pro65Gln), gnomAD X-108559116-C-A, REVEL 0.47, CADD 20.60
- P65P (p.Pro65Pro), rs772246749, gnomAD X-108559117-A-G, CADD 12.50
- G66V (p.Gly66Val), NCI-TCGA Cosmic COSV6036, cosmic curated COSV60367, Variant assessed as somatic; moderate impact.
- P67L (p.Pro67Leu), cosmic curated COSV10884, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P67A (p.Pro67Ala), gnomAD X-108559121-C-G, REVEL 0.40, CADD 18.00
- P67P (p.Pro67Pro), rs1240066364, gnomAD X-108559123-A-G, CADD 11.60
- G69R (p.Gly69Arg), ExAC rs776454345, gnomAD rs776454345, REVEL 0.98, MetaLR 0.99
- P70S (p.Pro70Ser), Ensembl rs776356451, REVEL 0.65, MetaLR 0.88
- P71L (p.Pro71Leu), rs2065868609, ClinGen CA413914785, ClinVar RCV001730088, ClinVar RCV002539785, REVEL 0.67, MetaLR 0.88, Uncertain significance, not provided; X-linked Alport syndrome
- P71Q (p.Pro71Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P71S (p.Pro71Ser), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10008, REVEL 0.60, MetaLR 0.90, Variant assessed as somatic; moderate impact.
- P71P (p.Pro71Pro), rs764172210, gnomAD X-108559135-G-A, CADD 5.09
- G72V (p.Gly72Val), gnomAD X-108559137-G-T, REVEL 0.98, CADD 24.40
- G72G (p.Gly72Gly), rs1364824376, gnomAD X-108559138-G-A, CADD 0.77
- P73S (p.Pro73Ser), NCI-TCGA TCGA novel, REVEL 0.22, MetaLR 0.65, Variant assessed as somatic; moderate impact.
- P73L (p.Pro73Leu), gnomAD X-108559134-CG-C, CADD 22.30
- P73H (p.Pro73His), gnomAD X-108559140-C-A, REVEL 0.37, CADD 20.30
- R74L (p.Arg74Leu), rs137930367, ClinGen CA10488382, ClinVar RCV001769343, ESP rs137930367, REVEL 0.22, MetaLR 0.61, Uncertain significance, not provided
- R74Q (p.Arg74Gln), rs137930367, ClinGen CA10488381, ClinVar RCV001447531, ClinVar RCV004611827, REVEL 0.15, MetaLR 0.49, Likely benign, Inborn genetic diseases; not provided
- R74W (p.Arg74Trp), rs1052281498, ClinGen CA334177344, NCI-TCGA Cosmic COSV6036, cosmic curated COSV60366, REVEL 0.36, MetaLR 0.74, Uncertain significance, not provided
- G75V (p.Gly75Val), rs2524162968, ClinGen CA413914897, ClinVar RCV003567318, Likely pathogenic, not provided
- G75D (p.Gly75Asp), gnomAD X-108559142-CG-C, CADD 18.10
- G75E (p.Gly75Glu), gnomAD X-108559146-G-A, REVEL 0.98, CADD 24.20
- Q76H (p.Gln76His), rs2147722497, ClinGen CA413914933, ClinVar RCV001730002, Ensembl rs2147722497, AlphaMissense 0.18, MetaLR 0.75, Likely pathogenic, X-linked Alport syndrome
- Q76P (p.Gln76Pro), TOPMed rs2065868896
- Q76R (p.Gln76Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
Public COL4A5 analysis runs
- COL4A5 analysis run — COL4A5 (2,801 variants) — completed 2026-08-19