LRRK2 (Q5S007) variants and mutations
LRRK2 (also known as Q5S007) is a human protein-coding gene encoding a leucine-rich repeat serine/threonine-protein kinase 2 protein. Its kinase and GTPase activities regulate Rab proteins, vesicle trafficking, lysosomal function, and cellular stress responses. Gain-of-function variants, especially G2019S, are among the most common genetic causes of autosomal dominant Parkinson disease. This analysis covers 4,051 LRRK2 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes Hereditary late-onset Parkinson disease, Parkinson disease, and Young adult-onset Parkinsonism. Example LRRK2 variants include M1?, A2G, and A2V.
Variant analysis overview
- Gene: LRRK2
- Protein: Q5S007
- UniProt accession: Q5S007
- Organism: Homo sapiens
- Variants analyzed: 4051
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 3,899 unspecified-consequence records; 67 missense variants; 65 synonymous variants; 6 frameshift variants; 3 in-frame deletions; 4 stop-gained variants; 4 splice-region variants; 3 substitution
- Prediction scores: 3,294 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hereditary late-onset Parkinson disease, Parkinson disease, Young adult-onset Parkinsonism, late-onset Parkinson disease, neurodegenerative disease, hereditary disease, Alzheimer disease, Parkinson disease, dominant, placental abruption, multiple sclerosis, lysosomal storage disease, Klippel-Feil syndrome 1, autosomal dominant.
Protein structure and variant hotspots
- Protein features: 3 domains; 19 binding sites; 6 post-translational modification sites.
- Structural context: 895 variants have structural context.
- 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 LRRK2 variants
Examples include M1?, A2G, A2V, S3T, S3S, G4A, G4D, G4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A2G (p.Ala2Gly), ExAC rs778295181, TOPMed rs778295181, gnomAD rs778295181, REVEL 0.15, MetaLR 0.19
- A2V (p.Ala2Val), ExAC rs778295181, TOPMed rs778295181, gnomAD rs778295181, MetaLR 0.16, MetaSVM -0.82
- S3T (p.Ser3Thr), gnomAD 12-40225139-G-C, REVEL 0.14, MetaLR 0.17
- S3S (p.Ser3Ser), rs1940799699, gnomAD 12-40225140-T-C, CADD 15.10
- G4A (p.Gly4Ala), ExAC rs747338046, TOPMed rs747338046, gnomAD rs747338046, REVEL 0.05, MetaLR 0.09
- G4D (p.Gly4Asp), NCI-TCGA Cosmic COSV5417, cosmic curated COSV54174, MetaLR 0.10, MetaSVM -0.81, Variant assessed as somatic; moderate impact.
- G4G (p.Gly4Gly), gnomAD 12-40225143-C-T, CADD 14.00
- S5G (p.Ser5Gly), TOPMed rs1307608899, REVEL 0.13, MetaLR 0.06
- S5R (p.Ser5Arg), ExAC rs771312063, gnomAD rs771312063, MetaLR 0.06, MetaSVM -1.02
- C6S (p.Cys6Ser), rs1940800044, ClinGen CA384398246, ClinVar RCV002944179, AlphaMissense 0.09, MetaLR 0.09, Uncertain significance, Autosomal dominant Parkinson disease 8
- C6Y (p.Cys6Tyr), rs1940800044, ClinGen CA384398247, ClinVar RCV002407888, Ensembl rs1940800044, AlphaMissense 0.09, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- Q7* (p.Gln7Ter), Ensembl rs1275919557
- Q7H (p.Gln7His), rs2499329256, ClinGen CA384398261, ClinVar RCV003640167, REVEL 0.07, MetaLR 0.06, Uncertain significance, Autosomal dominant Parkinson disease 8
- Q7P (p.Gln7Pro), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10011, MetaLR 0.06, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- G8E (p.Gly8Glu), rs1052256144, TOPMed rs1052256144, gnomAD rs1052256144, REVEL 0.12, MetaLR 0.05, Uncertain significance, Inborn genetic diseases
- G8R (p.Gly8Arg), rs981632250, ClinGen CA235343462, ClinVar RCV002598793, TOPMed rs981632250, REVEL 0.05, MetaLR 0.09, Uncertain significance, Autosomal dominant Parkinson disease 8
- G8G (p.Gly8Gly), rs1940800669, gnomAD 12-40225155-G-A, CADD 10.70
- C9G (p.Cys9Gly), cosmic curated COSV54159, ExAC rs200688492, gnomAD rs200688492, REVEL 0.05, MetaLR 0.07
- C9W (p.Cys9Trp), TOPMed rs1592124460, MetaLR 0.09, MetaSVM -1.01
- C9C (p.Cys9Cys), rs1592124460, gnomAD 12-40225158-C-T, CADD 14.50
- E10A (p.Glu10Ala), rs759670012, ClinGen CA6512964, ClinVar RCV002435599, ExAC rs759670012, REVEL 0.06, MetaLR 0.10, Uncertain significance, Inborn genetic diseases
- E10K (p.Glu10Lys), rs281865040, ClinGen CA343525, NCI-TCGA Cosmic COSV5416, cosmic curated COSV54164, REVEL 0.21, MetaLR 0.09, Uncertain significance, Autosomal dominant Parkinson disease 8
- E10V (p.Glu10Val), ExAC rs759670012, gnomAD rs759670012, REVEL 0.08, MetaLR 0.11, Uncertain significance
- E10G (p.Glu10Gly), gnomAD 12-40225160-A-G, REVEL 0.07, MetaLR 0.10
- E11A (p.Glu11Ala), rs2499329538, ClinGen CA384398299, ClinVar RCV003182516, Uncertain significance, Inborn genetic diseases
- E11K (p.Glu11Lys), gnomAD 12-40225162-G-A, REVEL 0.03, MetaLR 0.09
- E11D (p.Glu11Asp), gnomAD 12-40225164-G-C, REVEL 0.07, MetaLR 0.08
- D12E (p.Asp12Glu), rs2499329586, ClinGen CA384398317, ClinVar RCV003360796, Uncertain significance, Inborn genetic diseases
- E13D (p.Glu13Asp), rs775407458, ClinGen CA6512966, ClinVar RCV002375637, ExAC rs775407458, REVEL 0.10, MetaLR 0.15, Uncertain significance, Inborn genetic diseases
- E13G (p.Glu13Gly), TOPMed rs1940801965
- E13K (p.Glu13Lys), rs2499329609, ClinGen CA384398319, ClinVar RCV004517846, Uncertain significance, Inborn genetic diseases
- E13E (p.Glu13Glu), rs775407458, gnomAD 12-40225170-G-A, CADD 13.10
- E14E (p.Glu14Glu), gnomAD 12-40225173-A-G, CADD 13.20
- T15A (p.Thr15Ala), ExAC rs767521458, TOPMed rs767521458, gnomAD rs767521458, REVEL 0.05, MetaLR 0.03, Uncertain significance, Inborn genetic diseases
- T15S (p.Thr15Ser), ExAC rs767521458, TOPMed rs767521458, gnomAD rs767521458, REVEL 0.04, MetaLR 0.04, Uncertain significance
- T15T (p.Thr15Thr), rs142399623, gnomAD 12-40225176-T-C, CADD 13.30
- L16E (p.Leu16Glu), gnomAD 12-40225174-ACT-A, CADD 24.30
- K17N (p.Lys17Asn), rs760489048, NCI-TCGA Cosmic COSV5414, cosmic curated COSV54145, ExAC rs760489048, REVEL 0.05, MetaLR 0.09, Likely benign
- K17Q (p.Lys17Gln), rs1940803086, ClinGen CA384398366, ClinVar RCV002343005, TOPMed rs1940803086, REVEL 0.04, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- K17K (p.Lys17Lys), rs760489048, gnomAD 12-40225182-G-A, CADD 14.60
- K18del (p.Lys18del), rs1395532205, gnomAD 12-40225178-TGAA-, CADD 21.10
- K18K (p.Lys18Lys), rs766282693, gnomAD 12-40225185-G-A, CADD 14.00
- L19L (p.Leu19Leu), gnomAD 12-40225186-T-C, CADD 14.00
- L19S (p.Leu19Ser), gnomAD 12-40225187-T-C, REVEL 0.28, MetaLR 0.33
- I20M (p.Ile20Met), rs1940803472, ClinGen CA384398412, ClinVar RCV002360134, REVEL 0.02, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- I20V (p.Ile20Val), NCI-TCGA TCGA novel, MetaLR 0.05, MetaSVM -1.05, Variant assessed as somatic; moderate impact.
- I20T (p.Ile20Thr), gnomAD 12-40225190-T-C, REVEL 0.14, MetaLR 0.08
- I20I (p.Ile20Ile), rs1940803472, gnomAD 12-40225191-A-T, CADD 13.80
- V21A (p.Val21Ala), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10010, MetaLR 0.23, MetaSVM -0.67, Variant assessed as somatic; moderate impact.
- V21G (p.Val21Gly), rs1431729780, gnomAD 12-40225190-TAGTC, CADD 30.00
- V21V (p.Val21Val), gnomAD 12-40225194-C-T, CADD 13.10
- R22S (p.Arg22Ser), rs151283507, NCI-TCGA TCGA novel, ClinGen CA384398434, ClinVar RCV002367156, Uncertain significance, Inborn genetic diseases
- R22T (p.Arg22Thr), Ensembl rs1940803731
- R22R (p.Arg22Arg), rs151283507, gnomAD 12-40225197-G-A, CADD 13.60
- L23A (p.Leu23Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L23M (p.Leu23Met), ExAC rs754575389, TOPMed rs754575389, gnomAD rs754575389, MetaLR 0.36, MetaSVM -0.31, Likely benign
- L23L (p.Leu23Leu), rs754575389, gnomAD 12-40225198-C-T, CADD 14.30
- N24S (p.Asn24Ser), rs778678298, ClinGen CA6512974, ClinVar RCV002662397, ClinVar RCV004641997, REVEL 0.03, MetaLR 0.08, Uncertain significance, Inborn genetic diseases; Autosomal dominant Parkinson disease 8
- N24D (p.Asn24Asp), gnomAD 12-40225201-A-G, REVEL 0.03, MetaLR 0.07
- N25D (p.Asn25Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N25S (p.Asn25Ser), rs2499330246, ClinGen CA384398464, ClinVar RCV003182518, Uncertain significance, Inborn genetic diseases
- N25N (p.Asn25Asn), rs1592124542, gnomAD 12-40225206-T-C, CADD 12.00
- V26I (p.Val26Ile), rs752119684, ClinGen CA6512975, ClinVar RCV002400591, ExAC rs752119684, REVEL 0.05, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- Q27* (p.Gln27Ter), Ensembl rs2136364006
- Q27R (p.Gln27Arg), gnomAD rs1347707737, REVEL 0.17, MetaLR 0.13
- E28Q (p.Glu28Gln), gnomAD 12-40225213-G-C, REVEL 0.11, MetaLR 0.08
- E28A (p.Glu28Ala), gnomAD 12-40225214-A-C, REVEL 0.16, MetaLR 0.17
- E28G (p.Glu28Gly), gnomAD 12-40225214-A-G, REVEL 0.14, MetaLR 0.19
- E28E (p.Glu28Glu), gnomAD 12-40225215-A-G, CADD 13.70
- G29G (p.Gly29Gly), rs1470358837, gnomAD 12-40225218-A-G, CADD 14.80
- K30Q (p.Lys30Gln), NCI-TCGA TCGA novel, MetaLR 0.21, MetaSVM -0.67, Variant assessed as somatic; moderate impact.
- Q31* (p.Gln31Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Q31R (p.Gln31Arg), gnomAD 12-40225223-A-G, REVEL 0.24, MetaLR 0.09
- I32K (p.Ile32Lys), TOPMed rs1940804979
- I32L (p.Ile32Leu), rs757937882, ClinGen CA384398543, ClinVar RCV003049986, ExAC rs757937882, REVEL 0.11, MetaLR 0.06, Uncertain significance, Autosomal dominant Parkinson disease 8
- I32M (p.Ile32Met), rs2499330601, ClinGen CA384398550, ClinVar RCV002376633, Uncertain significance, Inborn genetic diseases
- I32V (p.Ile32Val), ExAC rs757937882, TOPMed rs757937882, gnomAD rs757937882, REVEL 0.04, MetaLR 0.08, Uncertain significance
- T34M (p.Thr34Met), gnomAD rs1285731382, REVEL 0.15, MetaLR 0.24
- T34S (p.Thr34Ser), rs2499330628, ClinGen CA384398564, ClinVar RCV003387108, Uncertain significance, Inborn genetic diseases
- T34R (p.Thr34Arg), gnomAD 12-40225232-C-G, REVEL 0.23, MetaLR 0.21
- T34T (p.Thr34Thr), rs1179163564, gnomAD 12-40225233-G-C, CADD 13.30
- L35V (p.Leu35Val), ExAC rs778207306, gnomAD rs778207306, REVEL 0.01, MetaLR 0.08
- L35L (p.Leu35Leu), rs1940805441, gnomAD 12-40225236-G-C, CADD 12.40
- V36A (p.Val36Ala), TOPMed rs1371271059, gnomAD rs1371271059, REVEL 0.10, MetaLR 0.08
- V36I (p.Val36Ile), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10010, MetaLR 0.05, MetaSVM -1.07, Variant assessed as somatic; moderate impact.
- V36V (p.Val36Val), rs1191982690, gnomAD 12-40225239-C-T, CADD 7.96
- Q37H (p.Gln37His), TOPMed rs1245773394, gnomAD rs1245773394, REVEL 0.26, MetaLR 0.19, Likely benign
- Q37Q (p.Gln37Gln), rs1245773394, gnomAD 12-40225242-A-G, CADD 10.30
- I38V (p.Ile38Val), rs2499330836, ClinGen CA384398610, ClinVar RCV002320449, REVEL 0.05, MetaLR 0.10, Uncertain significance, Inborn genetic diseases
- I38I (p.Ile38Ile), rs1592124610, gnomAD 12-40225245-C-A, CADD 13.70
- L39M (p.Leu39Met), gnomAD rs1455437751, REVEL 0.13, MetaLR 0.31
- L39P (p.Leu39Pro), rs2499330936, ClinGen CA384398635, ClinVar RCV002330074, Uncertain significance, Inborn genetic diseases
- L39V (p.Leu39Val), gnomAD 12-40225246-C-G, REVEL 0.13, MetaLR 0.19
- E40G (p.Glu40Gly), rs2499330993, ClinGen CA384398642, ClinVar RCV002344680, REVEL 0.16, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- E40Q (p.Glu40Gln), gnomAD 12-40225249-G-C, REVEL 0.01, MetaLR 0.08
- E40* (p.Glu40Ter), gnomAD 12-40225249-G-T, CADD 39.00
- D41Y (p.Asp41Tyr), TOPMed rs1422672946, REVEL 0.43, MetaLR 0.26, Uncertain significance, ischemic cerebrovascular diesease
- D41G (p.Asp41Gly), gnomAD 12-40225253-A-G, REVEL 0.34, MetaLR 0.11
- L43L (p.Leu43Leu), rs550441220, gnomAD 12-40225260-G-C, CADD 13.10
- V44A (p.Val44Ala), rs1394478762, ClinGen CA384398698, ClinVar RCV002385663, ClinVar RCV005626650, AlphaMissense 0.18, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; not provided
- V44L (p.Val44Leu), rs77507662, ClinGen CA384398692, ClinVar RCV004525087, Ensembl rs77507662, AlphaMissense 0.18, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- F45F (p.Phe45Phe), rs771491793, gnomAD 12-40225266-C-T, CADD 13.60
- T46A (p.Thr46Ala), Ensembl rs941811236, MetaLR 0.06, MetaSVM -1.05
- T46M (p.Thr46Met), rs781394575, ClinGen CA6512980, cosmic curated COSV10515, ClinVar RCV001903389, REVEL 0.07, MetaLR 0.10, Uncertain significance, Autosomal dominant Parkinson disease 8; Inborn genetic diseases
- T46S (p.Thr46Ser), rs941811236, ClinGen CA384398734, ClinVar RCV002383665, REVEL 0.03, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- T46T (p.Thr46Thr), rs1036182021, gnomAD 12-40225269-G-C, CADD 3.73
- Y47C (p.Tyr47Cys), Ensembl rs1940807929, MetaLR 0.08, MetaSVM -1.02
- Y47H (p.Tyr47His), gnomAD 12-40225270-T-C, REVEL 0.13, MetaLR 0.06
- S48F (p.Ser48Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S48S (p.Ser48Ser), gnomAD 12-40225275-C-T, CADD 11.60
- E49K (p.Glu49Lys), rs781237537, ClinGen CA6512982, ClinVar RCV004525094, ExAC rs781237537, REVEL 0.07, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- E49Q (p.Glu49Gln), rs781237537, ClinGen CA6512983, ClinVar RCV002396708, ExAC rs781237537, REVEL 0.08, MetaLR 0.07, Uncertain significance, Inborn genetic diseases
- E49R (p.Glu49Arg), NCI-TCGA TCGA novel, MetaLR 0.07, MetaSVM -1.00, Variant assessed as somatic; high impact.
- E49V (p.Glu49Val), gnomAD 12-40225277-A-T, REVEL 0.09, MetaLR 0.07
- E49E (p.Glu49Glu), rs1483067597, gnomAD 12-40225278-G-A, CADD 7.16
- R50=, rs2256408, ClinVar RCV000032408, ClinVar RCV000518786, AlphaMissense 0.06, MetaLR 0.00, Benign
- R50H (p.Arg50His), rs2256408, ClinGen CA6512984, cosmic curated COSV10459, ClinVar RCV001520526, REVEL 0.03, AlphaMissense 0.06, Benign, not specified; Autosomal dominant Parkinson disease 8; not provided
- R50C (p.Arg50Cys), gnomAD 12-40225279-C-T, REVEL 0.04, MetaLR 0.06
- R50P (p.Arg50Pro), gnomAD 12-40225280-G-C, REVEL 0.01, MetaLR 0.07
- R50R (p.Arg50Arg), gnomAD 12-40225281-C-G, CADD 16.20
- A51D (p.Ala51Asp), rs1940829289, ClinGen CA384398910, ClinVar RCV002400844, gnomAD rs1940829289, REVEL 0.14, MetaLR 0.20, Uncertain significance, Inborn genetic diseases
- A51S (p.Ala51Ser), gnomAD 12-40225282-G-T, REVEL 0.15, MetaLR 0.16
- A51T (p.Ala51Thr), gnomAD 12-40225282-G-A, REVEL 0.13, MetaLR 0.21
- A51A (p.Ala51Ala), rs1336563950, gnomAD 12-40225556-C-T, CADD 20.20
- S52F (p.Ser52Phe), rs72546335, ClinGen CA343483, ClinVar RCV000032410, TOPMed rs72546335, REVEL 0.15, MetaLR 0.09, not provided, Autosomal dominant Parkinson disease 8
- S52S (p.Ser52Ser), gnomAD 12-40225559-C-G, CADD 13.70
- K53* (p.Lys53Ter), TOPMed rs1173807591, gnomAD rs1173807591, CADD 37.00
- K53E (p.Lys53Glu), TOPMed rs1173807591, gnomAD rs1173807591, MetaLR 0.06, MetaSVM -1.03
- K53M (p.Lys53Met), rs202157354, ClinGen CA384398948, ClinVar RCV002398393, 1000Genomes rs202157354, REVEL 0.06, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- K53R (p.Lys53Arg), rs202157354, ClinGen CA6513006, ClinVar RCV001979694, ClinVar RCV005925388, REVEL 0.02, MetaLR 0.06, Uncertain significance, Autosomal dominant Parkinson disease 8
- K53Q (p.Lys53Gln), gnomAD 12-40225557-T-TC, CADD 27.70
- K53K (p.Lys53Lys), gnomAD 12-40225562-G-A, CADD 13.50
- L54L (p.Leu54Leu), rs776649677, gnomAD 12-40225563-T-C, CADD 13.80
- F55S (p.Phe55Ser), NCI-TCGA TCGA novel, MetaLR 0.25, MetaSVM -0.58, Variant assessed as somatic; moderate impact.
- Q56K (p.Gln56Lys), NCI-TCGA TCGA novel, MetaLR 0.04, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- Q56R (p.Gln56Arg), gnomAD rs1940830943, REVEL 0.11, MetaLR 0.06
- Q56Q (p.Gln56Gln), rs1251163181, gnomAD 12-40225571-A-G, CADD 14.50
- G57C (p.Gly57Cys), ESP rs370488844, ExAC rs370488844, TOPMed rs370488844, gnomAD rs370488844, REVEL 0.21, MetaLR 0.17, Uncertain significance
- G57S (p.Gly57Ser), rs370488844, ClinGen CA6513008, ClinVar RCV002406290, ESP rs370488844, REVEL 0.06, MetaLR 0.11, Uncertain significance, Inborn genetic diseases
- G57G (p.Gly57Gly), gnomAD 12-40225574-C-T, CADD 15.50
- K58Q (p.Lys58Gln), gnomAD 12-40225575-A-C, REVEL 0.12, MetaLR 0.09
- N59K (p.Asn59Lys), rs150422099, ClinGen CA6513011, ClinVar RCV000641027, ESP rs150422099, REVEL 0.07, MetaLR 0.09, Conflicting interpretations, Autosomal dominant Parkinson disease 8
- N59S (p.Asn59Ser), rs1940831608, ClinGen CA384399079, ClinVar RCV002401792, ClinVar RCV005097744, REVEL 0.09, MetaLR 0.11, Uncertain significance, Autosomal dominant Parkinson disease 8; Inborn genetic diseases
- I60V (p.Ile60Val), gnomAD 12-40225581-A-G, REVEL 0.05, MetaLR 0.03
- I60F (p.Ile60Phe), gnomAD 12-40225581-A-T, REVEL 0.04, MetaLR 0.04
- I60T (p.Ile60Thr), gnomAD 12-40225582-T-C, REVEL 0.04, MetaLR 0.07
- H61R (p.His61Arg), rs762593111, ClinGen CA6513012, ClinVar RCV002509991, ExAC rs762593111, REVEL 0.24, MetaLR 0.21, Uncertain significance, not provided
- H61Q (p.His61Gln), rs2499335859, ClinGen CA384399128, ClinVar RCV004525106, Uncertain significance, Inborn genetic diseases
- p.His61 Ile66del, rs762584163, gnomAD 12-40225580-TATCC, CADD 21.20
- H61H (p.His61His), gnomAD 12-40225586-T-C, CADD 13.30
- V62A (p.Val62Ala), rs2499335881, ClinGen CA384399133, ClinVar RCV002414901, Uncertain significance, Inborn genetic diseases
- V62V (p.Val62Val), rs763779128, gnomAD 12-40225589-G-A, CADD 13.30
- P63L (p.Pro63Leu), rs2499335926, ClinGen CA384399165, ClinVar RCV002408001, ClinVar RCV005242245, REVEL 0.26, MetaLR 0.22, Uncertain significance, Inborn genetic diseases; not provided
- P63S (p.Pro63Ser), TOPMed rs894713683, gnomAD rs894713683, REVEL 0.14, MetaLR 0.12
- L64M (p.Leu64Met), gnomAD 12-40225593-C-A, REVEL 0.12, MetaLR 0.26
- L65D (p.Leu65Asp), rs1181905113, gnomAD 12-40225593-CTG-C, CADD 31.00
- L65L (p.Leu65Leu), rs756784783, gnomAD 12-40225596-T-C, CADD 12.50
- I66M (p.Ile66Met), rs1940833074, ClinGen CA384399216, ClinVar RCV003387100, Uncertain significance, Inborn genetic diseases
- I66I (p.Ile66Ile), gnomAD 12-40225601-C-T, CADD 14.70
- V67A (p.Val67Ala), rs1165960349, ClinGen CA384399228, ClinVar RCV002417327, gnomAD rs1165960349, REVEL 0.13, MetaLR 0.11, Uncertain significance, Inborn genetic diseases
- V67F (p.Val67Phe), rs1940833181, ClinGen CA384399225, ClinVar RCV002417081, AlphaMissense 0.41, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- V67I (p.Val67Ile), NCI-TCGA Cosmic COSV5417, cosmic curated COSV54174, MetaLR 0.12, MetaSVM -0.74, Variant assessed as somatic; moderate impact.
- V67L (p.Val67Leu), rs1940833181, ClinGen CA384399223, ClinVar RCV002417079, TOPMed rs1940833181, REVEL 0.17, AlphaMissense 0.41, Uncertain significance, Inborn genetic diseases
- L68V (p.Leu68Val), NCI-TCGA TCGA novel, MetaLR 0.30, MetaSVM -0.50, Variant assessed as somatic; moderate impact.
- L68M (p.Leu68Met), gnomAD 12-40225605-T-A, REVEL 0.22, MetaLR 0.33
- L68L (p.Leu68Leu), rs1368062208, gnomAD 12-40225605-T-C, CADD 11.70
- L68W (p.Leu68Trp), gnomAD 12-40225606-T-G, REVEL 0.20, MetaLR 0.41
- S70C (p.Ser70Cys), Ensembl rs1555171842
- S70F (p.Ser70Phe), rs1555171842, ClinGen CA384399312, ClinVar RCV003182592, AlphaMissense 0.11, MetaLR 0.15, Uncertain significance, Inborn genetic diseases
- Y71* (p.Tyr71Ter), rs767872726, ClinGen CA384399347, ClinVar RCV002975905, CADD 32.00, Uncertain significance
- Y71C (p.Tyr71Cys), rs1442049869, ClinGen CA384399337, ClinVar RCV002033596, ClinVar RCV004045234, REVEL 0.25, MetaLR 0.24, Uncertain significance, Inborn genetic diseases; Autosomal dominant Parkinson disease 8
- Y71V (p.Tyr71Val), NCI-TCGA TCGA novel, MetaLR 0.18, MetaSVM -0.67, Variant assessed as somatic; high impact.
- Y71H (p.Tyr71His), gnomAD 12-40225614-T-C, REVEL 0.13, MetaLR 0.11
- Y71Y (p.Tyr71Tyr), rs767872726, gnomAD 12-40225616-T-C, CADD 6.10
- M72I (p.Met72Ile), cosmic curated COSV54159, TOPMed rs1209153628, gnomAD rs1209153628
- M72K (p.Met72Lys), ExAC rs750946093, TOPMed rs750946093, gnomAD rs750946093, Uncertain significance
- M72T (p.Met72Thr), rs750946093, ClinGen CA6513017, ClinVar RCV001109927, ExAC rs750946093, AlphaMissense 0.15, MetaLR 0.05, Uncertain significance, Autosomal dominant Parkinson disease 8
- M72V (p.Met72Val), rs1940833888, ClinGen CA384399367, ClinVar RCV002432423, ClinVar RCV003098661, AlphaMissense 0.07, MetaLR 0.04, Uncertain significance, Autosomal dominant Parkinson disease 8; Inborn genetic diseases
- R73G (p.Arg73Gly), rs887954350, ClinGen CA235343948, ClinVar RCV002432867, TOPMed rs887954350, REVEL 0.26, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
Public LRRK2 analysis runs
- LRRK2 analysis run — LRRK2 (4,051 variants) — completed 2026-08-10