PRKN (O60260) variants and mutations
PRKN (also known as O60260) is a human protein-coding gene encoding an e3 ubiquitin-protein ligase parkin protein. Its parkin ubiquitin-ligase activity marks damaged mitochondrial proteins after PINK1 activation and helps eliminate dysfunctional mitochondria through mitophagy. Biallelic loss-of-function variants are a major cause of autosomal recessive juvenile or early-onset Parkinson disease. This analysis covers 1,032 PRKN variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes Young adult-onset Parkinsonism, young-onset Parkinson disease, and lung cancer. Example PRKN variants include M1?, M1T, and I2M.
Variant analysis overview
- Gene: PRKN
- Protein: O60260
- UniProt accession: O60260
- Organism: Homo sapiens
- Variants analyzed: 1032
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 903 unspecified-consequence records; 1 natural variant; 1 stop retained variant; 65 synonymous variants; 49 missense variants; 7 frameshift variants; 4 stop-gained variants; 1 splice-region variants; 1 stop lost
- Prediction scores: 905 variants have prediction scores (88% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Young adult-onset Parkinsonism, young-onset Parkinson disease, lung cancer, ovarian cancer, Dystonia, Parkinson disease, diabetes mellitus, type 2 diabetes mellitus, Abnormality of the skeletal system, Parkinson disease 12, lung carcinoma, Hereditary late-onset Parkinson disease.
Protein structure and variant hotspots
- Protein features: 1 domains; 24 binding sites; 3 post-translational modification sites.
- Structural context: 147 variants have structural context.
- PTM context: 3 variants overlap post-translational modification sites.
- Experimental data: 465 protein positions have experimental scores. Source: abundance assays.
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 PRKN variants
Examples include M1?, M1T, I2M, I2T, I2V, V3L, R6G, R6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs772786691, ClinGen CA4090564, ClinVar RCV000585185, ClinVar RCV001449634, MetaLR 0.77, MetaSVM 0.54, Pathogenic
- M1T (p.Met1Thr), rs771586218, ClinGen CA4090563, ClinVar RCV000992706, ClinVar RCV001784521, MetaLR 0.91, MetaSVM 1.04, Pathogenic/Likely pathogenic, Autosomal dominant Parkinson disease 1; Autosomal recessive juvenile Parkinson d
- I2M (p.Ile2Met), gnomAD rs1462649580, REVEL 0.47, CADD 23.40
- I2T (p.Ile2Thr), gnomAD rs1779350904, REVEL 0.60, CADD 23.80
- I2V (p.Ile2Val), rs747682986, ClinGen CA4090562, ClinVar RCV001313653, ExAC rs747682986, REVEL 0.30, CADD 22.20, Uncertain significance, not provided
- V3L (p.Val3Leu), Ensembl rs2128243198, REVEL 0.60, CADD 36.00
- R6G (p.Arg6Gly), Ensembl rs2128167790
- R6S (p.Arg6Ser), cosmic curated COSV58242, ExAC rs758661420, gnomAD rs758661420, REVEL 0.88, MetaLR 0.91
- F7L (p.Phe7Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10648, cosmic curated COSV10062, MetaLR 0.88, MetaSVM 0.94, Variant assessed as somatic; moderate impact.
- N8I (p.Asn8Ile), ExAC rs748110477, TOPMed rs748110477, gnomAD rs748110477, REVEL 0.75, MetaLR 0.90, Uncertain significance, Inborn genetic diseases
- N8K (p.Asn8Lys), TOPMed rs1427758458, MetaLR 0.91, MetaSVM 1.04
- N8S (p.Asn8Ser), ExAC rs748110477, TOPMed rs748110477, gnomAD rs748110477, REVEL 0.54, MetaLR 0.84
- N8T (p.Asn8Thr), ExAC rs748110477, TOPMed rs748110477, gnomAD rs748110477, REVEL 0.64, MetaLR 0.87
- S9A (p.Ser9Ala), rs111356273, NCI-TCGA Cosmic COSV5823, cosmic curated COSV58239, gnomAD rs111356273, REVEL 0.77, MetaLR 0.92, Variant assessed as somatic; moderate impact.
- S9C (p.Ser9Cys), TOPMed rs1399415195
- S9F (p.Ser9Phe), TOPMed rs1399415195, REVEL 0.82, MetaLR 0.93
- S9P (p.Ser9Pro), gnomAD rs111356273, REVEL 0.85, MetaLR 0.92
- S10I (p.Ser10Ile), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, Variant assessed as somatic; moderate impact.
- S10N (p.Ser10Asn), Ensembl rs1554325735, MetaLR 0.63, MetaSVM -0.14
- G12C (p.Gly12Cys), cosmic curated COSV10063, TOPMed rs1790160559
- G12D (p.Gly12Asp), NCI-TCGA TCGA novel, MetaLR 0.39, MetaSVM -0.35, Variant assessed as somatic; moderate impact.
- F13V (p.Phe13Val), NCI-TCGA Cosmic COSV5824, cosmic curated COSV58244, MetaLR 0.31, MetaSVM -0.53, Variant assessed as somatic; moderate impact.
- P14S (p.Pro14Ser), cosmic curated COSV58224, TOPMed rs1159057404, gnomAD rs1159057404, REVEL 0.46, MetaLR 0.26
- V15A (p.Val15Ala), rs1790160024, ClinGen CA366477438, cosmic curated COSV10063, ClinVar RCV003135142, AlphaMissense 0.41, MetaLR 0.57, Uncertain significance, Autosomal recessive juvenile Parkinson disease 2
- V15L (p.Val15Leu), 1000Genomes rs532703934, ExAC rs532703934, TOPMed rs532703934, gnomAD rs532703934, REVEL 0.41, MetaLR 0.34
- V15M (p.Val15Met), rs532703934, UniProt VAR 019733, 1000Genomes rs532703934, ExAC rs532703934, REVEL 0.70, MetaLR 0.64, Pathogenic, in PARK2
- E16* (p.Glu16Ter), cosmic curated COSV58207, Ensembl rs2128167771
- E16A (p.Glu16Ala), TOPMed rs199841689, REVEL 0.81, MetaLR 0.58
- E16V (p.Glu16Val), TOPMed rs199841689, MetaLR 0.61, MetaSVM 0.20
- V17D (p.Val17Asp), Ensembl rs2128167769, MetaLR 0.67, MetaSVM 0.52
- D18A (p.Asp18Ala), TOPMed rs1438259227, gnomAD rs1438259227
- D18H (p.Asp18His), cosmic curated COSV58202, 1000Genomes rs146288080, ESP rs146288080, ExAC rs146288080, Likely benign
- D18N (p.Asp18Asn), rs146288080, ClinGen CA4090524, ClinVar RCV001423716, ClinVar RCV002509682, REVEL 0.24, MetaLR 0.16, Conflicting interpretations, not provided; not specified
- D18V (p.Asp18Val), TOPMed rs1438259227, gnomAD rs1438259227, REVEL 0.58, MetaLR 0.35
- S19Y (p.Ser19Tyr), NCI-TCGA TCGA novel, MetaLR 0.37, MetaSVM -0.60, Variant assessed as somatic; moderate impact.
- T21I (p.Thr21Ile), 1000Genomes rs530092788, ExAC rs530092788, TOPMed rs530092788, gnomAD rs530092788, REVEL 0.44, MetaLR 0.33
- T21N (p.Thr21Asn), 1000Genomes rs530092788, ExAC rs530092788, TOPMed rs530092788, gnomAD rs530092788, REVEL 0.36, MetaLR 0.33, Uncertain significance, Inborn genetic diseases
- S22G (p.Ser22Gly), ExAC rs768213475, gnomAD rs768213475, REVEL 0.49, MetaLR 0.48
- S22I (p.Ser22Ile), NCI-TCGA Cosmic COSV5828, cosmic curated COSV58280, REVEL 0.66, MetaLR 0.44, Variant assessed as somatic; moderate impact.
- S22N (p.Ser22Asn), Ensembl rs2128167759, REVEL 0.29, MetaLR 0.26
- S22R (p.Ser22Arg), ExAC rs768213475, gnomAD rs768213475
- I23N (p.Ile23Asn), rs199859147, ClinGen CA366477388, ClinVar RCV000819694, 1000Genomes rs199859147, AlphaMissense 0.91, MetaLR 0.64, Uncertain significance, not provided
- I23T (p.Ile23Thr), 1000Genomes rs199859147, ExAC rs199859147, gnomAD rs199859147, REVEL 0.85, AlphaMissense 0.91, Uncertain significance
- F24I (p.Phe24Ile), TOPMed rs1221959433, gnomAD rs1221959433, REVEL 0.17, MetaLR 0.11
- F24L (p.Phe24Leu), TOPMed rs1283476623, REVEL 0.09, MetaLR 0.04
- Q25* (p.Gln25Ter), rs1440010564, ClinGen CA366477375, ClinVar RCV001816450, ClinVar RCV002489862, CADD 43.00, Pathogenic
- Q25P (p.Gln25Pro), Ensembl rs1562768862, REVEL 0.69, MetaLR 0.51
- K27Q (p.Lys27Gln), gnomAD rs1790157768, REVEL 0.90, MetaLR 0.90
- K27R (p.Lys27Arg), TOPMed rs1562768845, gnomAD rs1562768845, REVEL 0.87, MetaLR 0.86, Uncertain significance
- K27T (p.Lys27Thr), rs1562768845, ClinGen CA366477359, ClinVar RCV003075264, TOPMed rs1562768845, REVEL 0.93, MetaLR 0.90, Uncertain significance, not provided
- E28G (p.Glu28Gly), 1000Genomes rs200805156, ExAC rs200805156, gnomAD rs200805156, REVEL 0.74, MetaLR 0.53
- V29G (p.Val29Gly), Ensembl rs1583580793
- V29M (p.Val29Met), rs2547060417, ClinGen CA366477348, ClinVar RCV002610390, ClinVar RCV004068811, Uncertain significance, Inborn genetic diseases; not provided
- V30D (p.Val30Asp), ExAC rs745697155, gnomAD rs745697155, REVEL 0.86, MetaLR 0.61
- V30I (p.Val30Ile), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, TOPMed rs1790157119, REVEL 0.22, MetaLR 0.26, Variant assessed as somatic; moderate impact.
- A31D (p.Ala31Asp), TOPMed rs1285335787, gnomAD rs1285335787, REVEL 0.66, MetaLR 0.58
- A31T (p.Ala31Thr), Ensembl rs2128167737
- K32M (p.Lys32Met), NCI-TCGA Cosmic COSV5823, cosmic curated COSV58236, MetaLR 0.32, MetaSVM -0.39, Variant assessed as somatic; moderate impact.
- K32T (p.Lys32Thr), ExAC rs781111288, TOPMed rs781111288, gnomAD rs781111288, REVEL 0.54, MetaLR 0.26
- R33* (p.Arg33Ter), rs770591350, ClinGen CA4090516, ClinVar RCV001058075, ExAC rs770591350, CADD 45.00, Pathogenic, in PARK2
- R33L (p.Arg33Leu), ESP rs147757966, ExAC rs147757966, TOPMed rs147757966, gnomAD rs147757966, REVEL 0.33, MetaLR 0.27, Pathogenic, in PARK2
- R33P (p.Arg33Pro), ESP rs147757966, ExAC rs147757966, TOPMed rs147757966, gnomAD rs147757966, REVEL 0.61, MetaLR 0.41, Pathogenic, in PARK2
- R33Q (p.Arg33Gln), rs147757966, ClinGen CA4090515, ClinVar RCV001090784, ClinVar RCV003907954, REVEL 0.40, MetaLR 0.12, Pathogenic/Likely pathogenic, Autosomal recessive juvenile Parkinson disease 2; Lung cancer; Ovarian cancer
- Q34H (p.Gln34His), Ensembl rs1790155524
- Q34R (p.Gln34Arg), rs148851677, ClinGen CA4090514, ClinVar RCV000537921, ClinVar RCV001507187, REVEL 0.59, MetaLR 0.53, Benign/Likely benign, not provided; not specified; Autosomal recessive juvenile Parkinson disease 2
- G35V (p.Gly35Val), Ensembl rs1790155428, MetaLR 0.73, MetaSVM 0.57
- V36F (p.Val36Phe), cosmic curated COSV58281, TOPMed rs1468779980, gnomAD rs1468779980, REVEL 0.64, MetaLR 0.61
- V36I (p.Val36Ile), cosmic curated COSV10591, TOPMed rs1468779980, gnomAD rs1468779980, REVEL 0.23, MetaLR 0.29
- P37L (p.Pro37Leu), rs148990138, ClinGen CA4090511, cosmic curated COSV58248, ClinVar RCV001090783, REVEL 0.77, MetaLR 0.65, Conflicting interpretations, not provided; Autosomal recessive juvenile Parkinson disease 2
- P37Q (p.Pro37Gln), 1000Genomes rs148990138, ESP rs148990138, ExAC rs148990138, TOPMed rs148990138, REVEL 0.42, MetaLR 0.45, Uncertain significance, in PARK2
- P37S (p.Pro37Ser), cosmic curated COSV10591, TOPMed rs1008851822, gnomAD rs1008851822, MetaLR 0.65, MetaSVM 0.33
- P37T (p.Pro37Thr), TOPMed rs1008851822, gnomAD rs1008851822, REVEL 0.67, MetaLR 0.62
- A38T (p.Ala38Thr), cosmic curated COSV10886, Ensembl rs2128167716
- A38V (p.Ala38Val), gnomAD rs1433385523, REVEL 0.15, MetaLR 0.12
- D39E (p.Asp39Glu), rs756595206, ClinGen CA4090508, ClinVar RCV001960349, ClinVar RCV005271561, REVEL 0.28, MetaLR 0.25, Uncertain significance, Inborn genetic diseases; not provided
- D39G (p.Asp39Gly), ExAC rs780581295, MetaLR 0.48, MetaSVM -0.10
- D39N (p.Asp39Asn), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10063, Ensembl rs1790154440, REVEL 0.40, MetaLR 0.50, Variant assessed as somatic; moderate impact.
- D39V (p.Asp39Val), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10063, REVEL 0.84, MetaLR 0.49, Variant assessed as somatic; moderate impact.
- Q40* (p.Gln40Ter), Ensembl rs1554325684
- L41F (p.Leu41Phe), ExAC rs750884521, TOPMed rs750884521, gnomAD rs750884521, REVEL 0.69, MetaLR 0.47
- R42C (p.Arg42Cys), rs577232474, ClinGen CA4090506, cosmic curated COSV10966, ClinVar RCV001458156, REVEL 0.61, MetaLR 0.23, Likely benign, not provided
- R42H (p.Arg42His), rs368134308, ClinGen CA4090504, cosmic curated COSV58241, ClinVar RCV000474986, REVEL 0.57, MetaLR 0.33, Conflicting interpretations, not provided; Autosomal recessive juvenile Parkinson disease 2
- R42L (p.Arg42Leu), cosmic curated COSV10591, 1000Genomes rs368134308, ESP rs368134308, ExAC rs368134308, REVEL 0.67, MetaLR 0.62, Pathogenic, in PARK2 and PARK
- R42P (p.Arg42Pro), rs368134308, ClinGen CA4090505, ClinVar RCV000797973, ClinVar RCV006459919, REVEL 0.74, MetaLR 0.67, Pathogenic, not provided; Autosomal recessive juvenile Parkinson disease 2
- I44L (p.Ile44Leu), gnomAD rs1210977280, REVEL 0.53, MetaLR 0.51
- A46E (p.Ala46Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10063, Variant assessed as somatic; moderate impact., in PARK2
- A46P (p.Ala46Pro), UniProt VAR 019737, Pathogenic, in PARK2
- A46S (p.Ala46Ser), rs75860381, ClinGen CA366477246, ClinVar RCV001231427, 1000Genomes rs75860381, REVEL 0.51, MetaLR 0.41, Uncertain significance, not provided
- A46T (p.Ala46Thr), rs75860381, ClinGen CA4090502, cosmic curated COSV99080, ClinVar RCV000534302, REVEL 0.67, MetaLR 0.53, Benign/Likely benign, Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
- A46V (p.Ala46Val), TOPMed rs1373931707, MetaLR 0.67, MetaSVM 0.46
- G47E (p.Gly47Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10063, TOPMed rs1790152323, gnomAD rs1790152323, REVEL 0.89, MetaLR 0.93, Variant assessed as somatic; moderate impact.
- G47R (p.Gly47Arg), TOPMed rs1242294277, REVEL 0.83, MetaLR 0.92
- E49* (p.Glu49Ter), NCI-TCGA Cosmic COSV5824, NCI-TCGA Cosmic COSV5828, cosmic curated COSV58282, Variant assessed as somatic; high impact.
- E49D (p.Glu49Asp), rs199762783, ClinGen CA366477222, ClinVar RCV001060078, 1000Genomes rs199762783, REVEL 0.41, MetaLR 0.38, Uncertain significance, not provided
- L50V (p.Leu50Val), gnomAD rs1378857360, REVEL 0.86, MetaLR 0.86
- R51S (p.Arg51Ser), TOPMed rs1309785126, gnomAD rs1309785126, REVEL 0.13, MetaLR 0.06, Likely benign
- R51T (p.Arg51Thr), TOPMed rs1005880478, gnomAD rs1005880478, REVEL 0.16, MetaLR 0.11
- R51W (p.Arg51Trp), 1000Genomes rs765314868, ExAC rs765314868, MetaLR 0.11, MetaSVM -0.81
- N52H (p.Asn52His), ExAC rs759577251, gnomAD rs759577251
- N52I (p.Asn52Ile), ExAC rs776644079, gnomAD rs776644079
- N52K (p.Asn52Lys), TOPMed rs1292308780, MetaLR 0.07, MetaSVM -1.00
- N52S (p.Asn52Ser), ExAC rs776644079, gnomAD rs776644079, REVEL 0.28, MetaLR 0.36
- D53E (p.Asp53Glu), ExAC rs770775415, gnomAD rs770775415, REVEL 0.31, MetaLR 0.74
- D53N (p.Asp53Asn), Ensembl rs952977187
- D53V (p.Asp53Val), Ensembl rs2128167671, MetaLR 0.92, MetaSVM 1.03
- W54* (p.Trp54Ter), gnomAD rs1344168940
- W54R (p.Trp54Arg), Ensembl rs1554325654, REVEL 0.14, MetaLR 0.09
- T55I (p.Thr55Ile), TOPMed rs1790150139, gnomAD rs1790150139, REVEL 0.68, MetaLR 0.47
- V56E (p.Val56Glu), rs137853059, ClinGen CA254085, cosmic curated COSV58212, ClinVar RCV000007463, REVEL 0.91, MetaLR 0.92, Pathogenic/Likely pathogenic, not provided; Autosomal recessive juvenile Parkinson disease 2
- V56L (p.Val56Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in PARK2
- V56M (p.Val56Met), ESP rs145942836, ExAC rs145942836, TOPMed rs145942836, REVEL 0.42, MetaLR 0.86
- Q57* (p.Gln57Ter), gnomAD rs1421197461
- Q57=, rs1554325642, NCI-TCGA Cosmic COSV5820, Variant assessed as somatic; low impact.
- Q57E (p.Gln57Glu), gnomAD rs1421197461
- N58H (p.Asn58His), Ensembl rs2128100182
- C59F (p.Cys59Phe), cosmic curated COSV58277, gnomAD rs1428787131, REVEL 0.66, MetaLR 0.48
- D60N (p.Asp60Asn), gnomAD rs1197520335, REVEL 0.60, MetaLR 0.77
- D60V (p.Asp60Val), Ensembl rs2128100175, REVEL 0.85, MetaLR 0.91
- L61M (p.Leu61Met), TOPMed rs1779948322, REVEL 0.59, MetaLR 0.41
- D62A (p.Asp62Ala), gnomAD rs1779948064, REVEL 0.05, MetaLR 0.06
- D62G (p.Asp62Gly), gnomAD rs1779948064, MetaLR 0.05, MetaSVM -0.98
- Q63* (p.Gln63Ter), gnomAD rs1435195836, CADD 38.00
- Q63R (p.Gln63Arg), gnomAD rs1269160083, REVEL 0.71, MetaLR 0.85
- Q64* (p.Gln64Ter), TOPMed rs1779947692, CADD 38.00
- Q64P (p.Gln64Pro), ESP rs373204115, ExAC rs373204115, TOPMed rs373204115, gnomAD rs373204115, REVEL 0.84, MetaLR 0.90
- S65G (p.Ser65Gly), Ensembl rs2128100168, MetaLR 0.52, MetaSVM -0.05
- S65N (p.Ser65Asn), rs754604402, ClinGen CA4090454, ClinVar RCV002036316, ExAC rs754604402, REVEL 0.59, MetaLR 0.57, Uncertain significance, not provided
- I66T (p.Ile66Thr), Ensembl rs1779947395, MetaLR 0.10, MetaSVM -0.83
- V67D (p.Val67Asp), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10063, MetaLR 0.94, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- V67F (p.Val67Phe), rs1406898777, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10063, gnomAD rs1406898777, REVEL 0.83, MetaLR 0.92, Variant assessed as somatic; moderate impact.
- H68P (p.His68Pro), TOPMed rs994961460
- H68R (p.His68Arg), TOPMed rs994961460, MetaLR 0.58, MetaSVM 0.30
- I69T (p.Ile69Thr), gnomAD rs1410734761, REVEL 0.50, MetaLR 0.70
- I69V (p.Ile69Val), rs766391627, ClinGen CA4090452, ClinVar RCV001235576, ClinVar RCV003331086, REVEL 0.34, MetaLR 0.27, Uncertain significance, not specified; not provided
- V70G (p.Val70Gly), ExAC rs760555216, gnomAD rs760555216, REVEL 0.91, MetaLR 0.94
- V70L (p.Val70Leu), Ensembl rs899299169, REVEL 0.71, MetaLR 0.86, Uncertain significance
- V70M (p.Val70Met), rs899299169, ClinGen CA151118933, ClinVar RCV001769374, Ensembl rs899299169, REVEL 0.76, MetaLR 0.93, Uncertain significance, not provided
- Q71* (p.Gln71Ter), Ensembl rs2128100153
- R72* (p.Arg72Ter), ExAC rs767216170, gnomAD rs767216170, CADD 35.00
- R72K (p.Arg72Lys), NCI-TCGA TCGA novel, MetaLR 0.15, MetaSVM -0.96, Variant assessed as somatic; moderate impact.
- P73L (p.Pro73Leu), ExAC rs775743629, TOPMed rs775743629, gnomAD rs775743629, REVEL 0.14, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- P73Q (p.Pro73Gln), ExAC rs775743629, TOPMed rs775743629, gnomAD rs775743629, REVEL 0.20, MetaLR 0.29
- P73R (p.Pro73Arg), ExAC rs775743629, TOPMed rs775743629, gnomAD rs775743629, REVEL 0.24, MetaLR 0.31
- P73S (p.Pro73Ser), ExAC rs761534755, TOPMed rs761534755, gnomAD rs761534755, MetaLR 0.31, MetaSVM -0.79
- P73T (p.Pro73Thr), ExAC rs761534755, TOPMed rs761534755, gnomAD rs761534755, REVEL 0.24, MetaLR 0.23
- W74G (p.Trp74Gly), Ensembl rs2128100150, MetaLR 0.21, MetaSVM -0.42
- R75K (p.Arg75Lys), ExAC rs759650233, TOPMed rs759650233, gnomAD rs759650233, REVEL 0.17, MetaLR 0.37
- G77C (p.Gly77Cys), gnomAD rs1779944769, REVEL 0.20, MetaLR 0.44
- Q78E (p.Gln78Glu), Ensembl rs2128100142
- Q78P (p.Gln78Pro), gnomAD rs1050736954, REVEL 0.15, MetaLR 0.27
- E79* (p.Glu79Ter), rs770994041, NCI-TCGA Cosmic COSV5826, cosmic curated COSV58264, ExAC rs770994041, CADD 33.00, Variant assessed as somatic; high impact.
- E79K (p.Glu79Lys), ExAC rs770994041, TOPMed rs770994041, gnomAD rs770994041
- E79Q (p.Glu79Gln), ExAC rs770994041, TOPMed rs770994041, gnomAD rs770994041, REVEL 0.20, MetaLR 0.50
- E79V (p.Glu79Val), TOPMed rs1440224564, MetaLR 0.50, MetaSVM -0.35
- M80I (p.Met80Ile), rs1378447280, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, gnomAD rs1378447280, REVEL 0.15, MetaLR 0.22, Variant assessed as somatic; moderate impact.
- A82E (p.Ala82Glu), rs55774500, ClinGen CA254080, cosmic curated COSV58214, ClinVar RCV000007454, REVEL 0.56, MetaLR 0.27, Benign/Likely benign, not specified; not provided; Autosomal recessive juvenile Parkinson disease 2
- A82T (p.Ala82Thr), TOPMed rs1186161188, gnomAD rs1186161188, REVEL 0.09, MetaLR 0.21
- A82V (p.Ala82Val), cosmic curated COSV10591, 1000Genomes rs55774500, ESP rs55774500, ExAC rs55774500, REVEL 0.11, MetaLR 0.27, Benign, in PARK2
- T83A (p.Thr83Ala), rs141825163, ClinGen CA4090440, ClinVar RCV001151479, ClinVar RCV002032396, REVEL 0.27, MetaLR 0.18, Uncertain significance, not provided; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
- G85C (p.Gly85Cys), rs1042122187, TOPMed rs1042122187, REVEL 0.30, MetaLR 0.63, Variant assessed as somatic; moderate impact.
- D86E (p.Asp86Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, NCI-TCGA Cosmic COSV5822, Variant assessed as somatic; moderate impact.
- D86H (p.Asp86His), TOPMed rs747891099, gnomAD rs747891099
- D86N (p.Asp86Asn), rs747891099, NCI-TCGA Cosmic COSV5820, cosmic curated COSV58207, TOPMed rs747891099, REVEL 0.14, MetaLR 0.28, Variant assessed as somatic; moderate impact.
- D86V (p.Asp86Val), Ensembl rs2128100125, MetaLR 0.38, MetaSVM -0.60
- D86Y (p.Asp86Tyr), TOPMed rs747891099, gnomAD rs747891099, REVEL 0.30, MetaLR 0.45
- D87N (p.Asp87Asn), cosmic curated COSV10524, ExAC rs754657726, gnomAD rs754657726, REVEL 0.24, MetaLR 0.23
- P88H (p.Pro88His), ExAC rs779465584, gnomAD rs779465584
- P88L (p.Pro88Leu), cosmic curated COSV58282, ExAC rs779465584, gnomAD rs779465584, REVEL 0.10, MetaLR 0.43
- P88R (p.Pro88Arg), cosmic curated COSV58284, ExAC rs779465584, gnomAD rs779465584, MetaLR 0.50, MetaSVM -0.40
- P88S (p.Pro88Ser), ExAC rs753483597, gnomAD rs753483597, REVEL 0.12, MetaLR 0.42
- R89G (p.Arg89Gly), cosmic curated COSV58282, ExAC rs755588390, gnomAD rs755588390, REVEL 0.10, MetaLR 0.25
- R89K (p.Arg89Lys), cosmic curated COSV58292, gnomAD rs1238707850, REVEL 0.06, MetaLR 0.26
- R89S (p.Arg89Ser), ExAC rs750337199, gnomAD rs750337199, REVEL 0.13, MetaLR 0.26
- N90T (p.Asn90Thr), NCI-TCGA TCGA novel, MetaLR 0.22, MetaSVM -0.70, Variant assessed as somatic; moderate impact.
- A91S (p.Ala91Ser), cosmic curated COSV10591, 1000Genomes rs552077922, ExAC rs552077922, gnomAD rs552077922, REVEL 0.29, MetaLR 0.24, Likely benign
- A91T (p.Ala91Thr), rs552077922, ClinGen CA4090431, NCI-TCGA Cosmic COSV5822, ClinVar RCV004515245, REVEL 0.34, MetaLR 0.22, Likely benign, Inborn genetic diseases
- A91V (p.Ala91Val), rs528661586, ClinGen CA4090430, cosmic curated COSV58208, ClinVar RCV002020317, REVEL 0.16, MetaLR 0.41, Uncertain significance, not provided; Inborn genetic diseases
- A92R (p.Ala92Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact., in PARK2
- A92T (p.Ala92Thr), rs2546859500, ClinGen CA366476005, ClinVar RCV004515246, Uncertain significance, Inborn genetic diseases
- A92V (p.Ala92Val), rs566229879, cosmic curated COSV58225, UniProt VAR 019739, 1000Genomes rs566229879, REVEL 0.18, MetaLR 0.27, Pathogenic, in PARK2
Public PRKN analysis runs
- PRKN analysis run — PRKN (1,032 variants) — completed 2026-08-18