OCRL (Q01968) variants and mutations
OCRL (also known as Q01968) is a human protein-coding gene encoding an inositol polyphosphate 5-phosphatase protein. It dephosphorylates specific phosphoinositides on endosomal and Golgi membranes and thereby regulates membrane trafficking, actin dynamics, and primary-cilium function. Loss-of-function variants cause Lowe syndrome and Dent disease type 2. This analysis covers 885 OCRL variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes oculocerebrorenal syndrome, Dent disease type 2, and Dent disease. Example OCRL variants include E2D, E2*, and E2G.
Variant analysis overview
- Gene: OCRL
- Protein: Q01968
- UniProt accession: Q01968
- Organism: Homo sapiens
- Variants analyzed: 885
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 716 unspecified-consequence records; 6 stop-gained variants; 100 missense variants; 49 synonymous variants; 6 frameshift variants; 6 splice-region variants; 2 substitution
- Prediction scores: 772 variants have prediction scores (87% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: oculocerebrorenal syndrome, Dent disease type 2, Dent disease, nephrocalcinosis, hypercholesterolemia, familial, 1, Neurodevelopmental delay, amino acid metabolism disease, neurodegenerative disease, genetic developmental and epileptic encephalopathy, intellectual developmental disorder, autosomal dominant 65, Developmental cataract, acute lymphoblastic leukemia.
Protein structure and variant hotspots
- Protein features: 3 domains; 2 binding sites.
- Structural context: 659 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, ClinGen, MaveDB, LitVar.
Notable OCRL variants
Examples include E2D, E2*, E2G, E2E, P3L, P3T, P3S, P3Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2D (p.Glu2Asp), NCI-TCGA TCGA novel, gnomAD rs1270889316, REVEL 0.24, MetaLR 0.62, Variant assessed as somatic; moderate impact.
- E2* (p.Glu2Ter), gnomAD X-129540443-G-T, CADD 36.00
- E2G (p.Glu2Gly), gnomAD X-129540444-A-G, REVEL 0.35, MetaLR 0.63
- E2E (p.Glu2Glu), rs1270889316, gnomAD X-129540445-G-A, CADD 11.20
- P3L (p.Pro3Leu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10084, REVEL 0.20, MetaLR 0.59, Variant assessed as somatic; moderate impact.
- P3T (p.Pro3Thr), gnomAD rs1317886827, REVEL 0.21, MetaLR 0.60
- P3S (p.Pro3Ser), gnomAD X-129540446-C-T, REVEL 0.20, MetaLR 0.60
- P3Q (p.Pro3Gln), gnomAD X-129540447-C-A, REVEL 0.16, MetaLR 0.59
- P3P (p.Pro3Pro), gnomAD X-129540448-G-C, CADD 14.20
- P4L (p.Pro4Leu), rs770815981, ClinGen CA10511907, cosmic curated COSV10591, ClinVar RCV002485992, REVEL 0.24, MetaLR 0.47, Likely benign, Lowe syndrome; Nephrolithiasis/nephrocalcinosis; Dent disease type 2
- P4S (p.Pro4Ser), gnomAD X-129540449-C-T, REVEL 0.27, MetaLR 0.44
- P4R (p.Pro4Arg), gnomAD X-129540450-C-G, REVEL 0.28, MetaLR 0.43
- P4P (p.Pro4Pro), gnomAD X-129540451-G-A, CADD 13.10
- L5F (p.Leu5Phe), gnomAD X-129540452-C-T, REVEL 0.21, MetaLR 0.56
- L5P (p.Leu5Pro), gnomAD X-129540453-T-C, REVEL 0.46, MetaLR 0.73
- L5L (p.Leu5Leu), gnomAD X-129540454-C-A, CADD 12.00
- P6A (p.Pro6Ala), TOPMed rs1390002989, gnomAD rs1390002989, REVEL 0.19, MetaLR 0.50
- P6L (p.Pro6Leu), rs759203987, ClinGen CA10511909, ClinVar RCV003622291, ExAC rs759203987, REVEL 0.26, MetaLR 0.60, Likely benign, Lowe syndrome
- P6R (p.Pro6Arg), rs759203987, ClinGen CA414550232, ClinVar RCV002995870, ExAC rs759203987, REVEL 0.29, MetaLR 0.66, Likely benign, Lowe syndrome
- P6T (p.Pro6Thr), gnomAD X-129540455-C-A, REVEL 0.14, MetaLR 0.57
- P6Q (p.Pro6Gln), gnomAD X-129540456-C-A, REVEL 0.29, MetaLR 0.66
- P6P (p.Pro6Pro), gnomAD X-129540457-G-A, CADD 13.00
- V7F (p.Val7Phe), rs1935772672, ClinGen CA414550234, ClinVar RCV004799360, ClinVar RCV005040103, REVEL 0.41, MetaLR 0.55, Uncertain significance, Lowe syndrome; Dent disease type 2
- V7S (p.Val7Ser), gnomAD X-129540456-CG-C, CADD 23.50
- V7I (p.Val7Ile), gnomAD X-129540458-G-A, REVEL 0.29, MetaLR 0.40
- V7L (p.Val7Leu), gnomAD X-129540458-G-C, REVEL 0.28, MetaLR 0.48
- V7A (p.Val7Ala), gnomAD X-129540459-T-C, REVEL 0.24, MetaLR 0.57
- V7V (p.Val7Val), gnomAD X-129540460-C-A, CADD 21.40
- G8* (p.Gly8Ter), gnomAD X-129540461-G-T, CADD 37.00
- G8R (p.Gly8Arg), gnomAD X-129540461-G-A, REVEL 0.46, MetaLR 0.70
- G8V (p.Gly8Val), gnomAD X-129540462-G-T, REVEL 0.52, MetaLR 0.73
- G8G (p.Gly8Gly), gnomAD X-129540463-A-T, CADD 20.90
- A9T (p.Ala9Thr), rs1064796554, ClinGen CA16621196, ClinVar RCV000482529, Ensembl rs1064796554, AlphaMissense 0.13, MetaLR 0.57, Uncertain significance, not provided
- A9S (p.Ala9Ser), gnomAD X-129540464-G-T, REVEL 0.26, MetaLR 0.56
- A9P (p.Ala9Pro), gnomAD X-129540464-G-C, REVEL 0.50, MetaLR 0.61
- A9D (p.Ala9Asp), gnomAD X-129540465-C-A, REVEL 0.54, MetaLR 0.69
- A9A (p.Ala9Ala), gnomAD X-129540466-C-A, CADD 13.70
- Q10L (p.Gln10Leu), rs924766896, ClinGen CA335075262, ClinVar RCV003622017, ClinVar RCV006368540, REVEL 0.34, MetaLR 0.55, Uncertain significance, Nephrolithiasis/nephrocalcinosis; Lowe syndrome
- Q10* (p.Gln10Ter), gnomAD X-129540467-C-T, CADD 36.00
- Q10Q (p.Gln10Gln), gnomAD X-129540469-G-A, CADD 12.10
- Q10H (p.Gln10His), gnomAD X-129540469-G-T, REVEL 0.20, MetaLR 0.63
- P11L (p.Pro11Leu), gnomAD rs1359386930, REVEL 0.29, MetaLR 0.60
- P11Q (p.Pro11Gln), gnomAD rs1359386930, REVEL 0.31, MetaLR 0.60
- P11T (p.Pro11Thr), gnomAD X-129540470-C-A, REVEL 0.24, MetaLR 0.63
- P11S (p.Pro11Ser), gnomAD X-129540470-C-T, REVEL 0.23, MetaLR 0.61
- P11P (p.Pro11Pro), gnomAD X-129540472-G-C, CADD 15.10
- L12F (p.Leu12Phe), gnomAD X-129540473-C-T, REVEL 0.17, MetaLR 0.63
- L12I (p.Leu12Ile), gnomAD X-129540473-C-A, REVEL 0.26, MetaLR 0.56
- L12V (p.Leu12Val), gnomAD X-129540473-C-G, REVEL 0.26, MetaLR 0.54
- A13V (p.Ala13Val), gnomAD rs1266704387, REVEL 0.19, MetaLR 0.66
- A13S (p.Ala13Ser), gnomAD X-129540476-G-T, REVEL 0.29, MetaLR 0.60
- A13D (p.Ala13Asp), gnomAD X-129540477-C-A, REVEL 0.31, MetaLR 0.68
- A13A (p.Ala13Ala), rs934756915, gnomAD X-129540478-C-G, CADD 4.22
- T14A (p.Thr14Ala), rs371099243, ClinGen CA10511917, ClinVar RCV001817561, ClinVar RCV002482356, REVEL 0.15, MetaLR 0.59, Uncertain significance, not specified; Lowe syndrome; Dent disease type 2
- T14I (p.Thr14Ile), rs61752970, ClinGen CA154188, cosmic curated COSV10525, ClinVar RCV000117867, REVEL 0.23, MetaLR 0.58, Benign/Likely benign, Nephrolithiasis/nephrocalcinosis; not specified; not provided
- T14T (p.Thr14Thr), rs1935784945, gnomAD X-129540746-T-C, CADD 15.50
- V15L (p.Val15Leu), rs2071724829, ClinGen CA414550292, ClinVar RCV001905635, Ensembl rs2071724829, REVEL 0.30, MetaLR 0.61, Uncertain significance, Lowe syndrome
- V15V (p.Val15Val), rs1417460370, gnomAD X-129540749-C-T, CADD 11.50
- E16Q (p.Glu16Gln), Ensembl rs1935785100, REVEL 0.22, MetaLR 0.57
- E16K (p.Glu16Lys), gnomAD X-129540750-G-A, REVEL 0.23, MetaLR 0.61
- G17A (p.Gly17Ala), rs768913997, ClinGen CA10511918, ClinVar RCV000502299, ClinVar RCV002056860, REVEL 0.46, MetaLR 0.71, Conflicting interpretations, Nephrolithiasis/nephrocalcinosis; not specified; not provided
- G17D (p.Gly17Asp), NCI-TCGA Cosmic COSV6398, cosmic curated COSV63981, MetaLR 0.81, MetaSVM 0.76, Variant assessed as somatic; moderate impact.
- M18V (p.Met18Val), rs779021479, ClinGen CA10511919, ClinVar RCV001912807, ExAC rs779021479, REVEL 0.27, MetaLR 0.46, Likely benign, Lowe syndrome
- E19E (p.Glu19Glu), gnomAD X-129540761-G-A, CADD 14.80
- M20I (p.Met20Ile), gnomAD X-129540764-G-A, REVEL 0.21, MetaLR 0.42
- K21N (p.Lys21Asn), TOPMed rs1935785393
- K21T (p.Lys21Thr), Ensembl rs1935785325, MetaLR 0.66, MetaSVM -0.06
- K21K (p.Lys21Lys), gnomAD X-129540767-G-A, CADD 14.10
- G22G (p.Gly22Gly), gnomAD X-129540770-T-G, CADD 12.90
- P23S (p.Pro23Ser), rs761760656, ClinGen CA10511920, ClinVar RCV002633452, 1000Genomes rs761760656, REVEL 0.14, MetaLR 0.53, Likely benign, Lowe syndrome
- P23P (p.Pro23Pro), gnomAD X-129540773-T-C, CADD 11.70
- L24F (p.Leu24Phe), TOPMed rs1280365548, gnomAD rs1280365548, REVEL 0.18, MetaLR 0.54
- L24L (p.Leu24Leu), rs772216523, gnomAD X-129540776-C-G, CADD 9.52
- R25P (p.Arg25Pro), rs368472232, ClinGen CA10511922, ClinVar RCV003621769, ClinVar RCV005387212, REVEL 0.56, MetaLR 0.67, Uncertain significance, Nephrolithiasis/nephrocalcinosis; Lowe syndrome; not specified
- R25Q (p.Arg25Gln), ESP rs368472232, ExAC rs368472232, TOPMed rs368472232, gnomAD rs368472232, REVEL 0.18, MetaLR 0.64, Uncertain significance
- R25W (p.Arg25Trp), gnomAD X-129540777-C-T, REVEL 0.54, MetaLR 0.68
- R25L (p.Arg25Leu), gnomAD X-129540778-G-T, REVEL 0.49, MetaLR 0.65
- E26E (p.Glu26Glu), rs759554491, gnomAD X-129540782-G-A, CADD 13.70
- P27T (p.Pro27Thr), gnomAD X-129540783-C-A, REVEL 0.34, MetaLR 0.69
- P27P (p.Pro27Pro), gnomAD X-129540785-C-G, CADD 12.70
- C28C (p.Cys28Cys), gnomAD X-129540788-C-T, CADD 15.60
- A29V (p.Ala29Val), ExAC rs769711342, gnomAD rs769711342, MetaLR 0.53, MetaSVM -0.43, Uncertain significance, Lowe syndrome
- L30P (p.Leu30Pro), gnomAD X-129540793-T-C, REVEL 0.82, MetaLR 0.87
- T31I (p.Thr31Ile), rs762676076, ClinGen CA10511926, ClinVar RCV001936320, ClinVar RCV002491960, REVEL 0.23, MetaLR 0.56, Uncertain significance, Dent disease type 2; Lowe syndrome
- T31S (p.Thr31Ser), ExAC rs775485573, gnomAD rs775485573, MetaLR 0.44, MetaSVM -0.58
- T31N (p.Thr31Asn), gnomAD X-129540796-C-A, REVEL 0.14, MetaLR 0.60
- T31T (p.Thr31Thr), gnomAD X-129540797-C-A, CADD 12.20
- L32I (p.Leu32Ile), TOPMed rs1437127217, gnomAD rs1437127217, REVEL 0.34, MetaLR 0.84
- L32V (p.Leu32Val), gnomAD X-129540798-C-G, REVEL 0.33, MetaLR 0.77
- A33S (p.Ala33Ser), ExAC rs763610437, TOPMed rs763610437, gnomAD rs763610437, REVEL 0.17, MetaLR 0.62
- A33T (p.Ala33Thr), gnomAD X-129540801-G-A, REVEL 0.17, MetaLR 0.65
- Q34R (p.Gln34Arg), rs751244947, ClinGen CA10511928, ClinVar RCV003456577, ClinVar RCV003509787, REVEL 0.16, MetaLR 0.46, Conflicting interpretations, Nephrolithiasis/nephrocalcinosis; Dent disease type 2; Lowe syndrome
- Q34E (p.Gln34Glu), gnomAD X-129540804-C-G, REVEL 0.20, MetaLR 0.59
- Q34Q (p.Gln34Gln), gnomAD X-129540806-G-A, CADD 11.30
- R35R (p.Arg35Arg), rs142321728, gnomAD X-129540809-G-A, CADD 15.20
- N36K (p.Asn36Lys), gnomAD rs1282233549, REVEL 0.16, MetaLR 0.54
- N36S (p.Asn36Ser), gnomAD rs1280312755, REVEL 0.15, MetaLR 0.48
- N36N (p.Asn36Asn), gnomAD X-129540812-C-T, CADD 12.30
- G37R (p.Gly37Arg), rs767054196, ClinGen CA10511930, ClinVar RCV003509622, ClinVar RCV004028361, REVEL 0.48, MetaLR 0.79, Uncertain significance, Nephrolithiasis/nephrocalcinosis; Lowe syndrome
- G37G (p.Gly37Gly), gnomAD X-129540815-G-A, CADD 12.10
- Q38L (p.Gln38Leu), NCI-TCGA Cosmic COSV6398, cosmic curated COSV63980, MetaLR 0.66, MetaSVM -0.02, Variant assessed as somatic; moderate impact.
- Q38R (p.Gln38Arg), gnomAD X-129540817-A-G, REVEL 0.43, MetaLR 0.61
- Y39* (p.Tyr39Ter), ExAC rs780372889, gnomAD rs780372889, Likely benign
- Y39C (p.Tyr39Cys), NCI-TCGA TCGA novel, REVEL 0.54, MetaLR 0.71, Variant assessed as somatic; moderate impact.
- Y39H (p.Tyr39His), rs756670728, ClinGen CA10511932, ClinVar RCV001908450, ClinVar RCV002506965, REVEL 0.28, MetaLR 0.73, Conflicting interpretations, Lowe syndrome; Dent disease type 2
- Y39Y (p.Tyr39Tyr), rs780372889, gnomAD X-129540821-T-C, CADD 17.50
- E40G (p.Glu40Gly), gnomAD X-129540823-A-G, REVEL 0.41, MetaLR 0.59
- E40E (p.Glu40Glu), gnomAD X-129544958-G-A, CADD 22.00
- L41L (p.Leu41Leu), gnomAD X-129544959-T-C, CADD 16.60
- L41* (p.Leu41Ter), gnomAD X-129544960-T-A, CADD 36.00
- L41S (p.Leu41Ser), gnomAD X-129544960-T-C, REVEL 0.70, MetaLR 0.84
- L41F (p.Leu41Phe), gnomAD X-129544961-A-T, REVEL 0.33, MetaLR 0.78
- I42V (p.Ile42Val), rs797045842, ClinGen CA209458, ClinVar RCV000194950, Ensembl rs797045842, REVEL 0.25, MetaLR 0.54, Uncertain significance
- I42T (p.Ile42Thr), gnomAD X-129544963-T-C, REVEL 0.48, MetaLR 0.64
- I42K (p.Ile42Lys), gnomAD X-129544963-T-A, REVEL 0.51, MetaLR 0.63
- I42M (p.Ile42Met), gnomAD X-129544964-A-G, REVEL 0.47, MetaLR 0.64
- I42I (p.Ile42Ile), gnomAD X-129544964-A-T, CADD 11.70
- I43M (p.Ile43Met), TOPMed rs1428285944, gnomAD rs1428285944, MetaLR 0.80, MetaSVM 0.70
- I43S (p.Ile43Ser), gnomAD X-129544963-TA-T, CADD 25.60
- I43V (p.Ile43Val), gnomAD X-129544965-A-G, REVEL 0.23, MetaLR 0.70
- I43T (p.Ile43Thr), gnomAD X-129544966-T-C, REVEL 0.66, MetaLR 0.78
- I43I (p.Ile43Ile), gnomAD X-129544967-C-T, CADD 13.60
- Q44* (p.Gln44Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10084, CADD 39.00, Variant assessed as somatic; high impact.
- Q44K (p.Gln44Lys), gnomAD X-129544968-C-A, REVEL 0.22, MetaLR 0.64
- Q44L (p.Gln44Leu), gnomAD X-129544969-A-T, REVEL 0.36, MetaLR 0.53
- Q44R (p.Gln44Arg), gnomAD X-129544969-A-G, REVEL 0.21, MetaLR 0.55
- Q44Q (p.Gln44Gln), gnomAD X-129544970-G-A, CADD 10.10
- Q44H (p.Gln44His), gnomAD X-129544970-G-T, REVEL 0.25, MetaLR 0.60
- L45L (p.Leu45Leu), gnomAD X-129544971-T-C, CADD 10.40
- L45S (p.Leu45Ser), gnomAD X-129544972-T-C, REVEL 0.21, MetaLR 0.45
- L45F (p.Leu45Phe), gnomAD X-129544973-G-T, REVEL 0.16, MetaLR 0.56
- H46R (p.His46Arg), Ensembl rs1935858989, REVEL 0.23, MetaLR 0.57
- H46N (p.His46Asn), gnomAD X-129544974-C-A, REVEL 0.27, MetaLR 0.59
- H46Y (p.His46Tyr), gnomAD X-129544974-C-T, REVEL 0.29, MetaLR 0.56
- H46H (p.His46His), gnomAD X-129544976-T-C, CADD 7.07
- E47K (p.Glu47Lys), gnomAD X-129544977-G-A, REVEL 0.17, MetaLR 0.63
- E47Q (p.Glu47Gln), gnomAD X-129544977-G-C, REVEL 0.17, MetaLR 0.64
- E47A (p.Glu47Ala), gnomAD X-129544978-A-C, REVEL 0.19, MetaLR 0.60
- E47G (p.Glu47Gly), gnomAD X-129544978-A-G, REVEL 0.23, MetaLR 0.50
- E47V (p.Glu47Val), gnomAD X-129544978-A-T, REVEL 0.28, MetaLR 0.65
- E47D (p.Glu47Asp), gnomAD X-129544979-G-T, REVEL 0.24, MetaLR 0.56
- E47E (p.Glu47Glu), gnomAD X-129544979-G-A, CADD 7.89
- K48R (p.Lys48Arg), gnomAD X-129544979-GA-G, CADD 25.80
- K48E (p.Lys48Glu), gnomAD X-129544980-A-G, REVEL 0.48, MetaLR 0.62
- K48K (p.Lys48Lys), gnomAD X-129544982-G-A, CADD 9.32
- E49K (p.Glu49Lys), gnomAD X-129544983-G-A, REVEL 0.49, MetaLR 0.68
- E49G (p.Glu49Gly), gnomAD X-129544984-A-G, REVEL 0.48, MetaLR 0.70
- E49E (p.Glu49Glu), gnomAD X-129544985-A-G, CADD 9.78
- E49D (p.Glu49Asp), gnomAD X-129544985-A-T, REVEL 0.23, MetaLR 0.52
- Q50K (p.Gln50Lys), gnomAD X-129544986-C-A, REVEL 0.25, MetaLR 0.54
- Q50L (p.Gln50Leu), gnomAD X-129544987-A-T, REVEL 0.23, MetaLR 0.58
- Q50R (p.Gln50Arg), gnomAD X-129544987-A-G, REVEL 0.24, MetaLR 0.58
- Q50H (p.Gln50His), gnomAD X-129544988-G-T, REVEL 0.21, MetaLR 0.61
- Q50Q (p.Gln50Gln), gnomAD X-129544988-G-A, CADD 6.66
- H51Q (p.His51Gln), rs1392543051, ClinGen CA414550550, ClinVar RCV001998315, gnomAD rs1392543051, REVEL 0.20, MetaLR 0.55, Uncertain significance, Lowe syndrome
- H51R (p.His51Arg), rs764804719, ClinGen CA10511956, ClinVar RCV001702160, ClinVar RCV001727973, REVEL 0.16, MetaLR 0.54, Benign/Likely benign, Lowe syndrome; Dent disease type 2; Intellectual disability
- H51N (p.His51Asn), gnomAD X-129544989-C-A, REVEL 0.26, MetaLR 0.62
- H51Y (p.His51Tyr), gnomAD X-129544989-C-T, REVEL 0.25, MetaLR 0.58
- H51H (p.His51His), rs1392543051, gnomAD X-129544991-T-C, CADD 9.53
- V52G (p.Val52Gly), NCI-TCGA Cosmic COSV6398, cosmic curated COSV63980, MetaLR 0.56, MetaSVM -0.15, Variant assessed as somatic; moderate impact.
- V52I (p.Val52Ile), gnomAD X-129544992-G-A, REVEL 0.16, MetaLR 0.57
- V52A (p.Val52Ala), gnomAD X-129544993-T-C, REVEL 0.19, MetaLR 0.50
- V52V (p.Val52Val), rs1229712591, gnomAD X-129544994-T-G, CADD 10.30
- Q53K (p.Gln53Lys), gnomAD X-129544995-C-A, REVEL 0.27, MetaLR 0.67
- Q53R (p.Gln53Arg), gnomAD X-129544996-A-G, REVEL 0.33, MetaLR 0.68
- Q53Q (p.Gln53Gln), gnomAD X-129544997-A-G, CADD 11.00
- D54N (p.Asp54Asn), gnomAD X-129544998-G-A, REVEL 0.31, MetaLR 0.82
- D54D (p.Asp54Asp), gnomAD X-129545000-T-C, CADD 10.90
- I55L (p.Ile55Leu), TOPMed rs989911294, gnomAD rs989911294, REVEL 0.22, MetaLR 0.61, Uncertain significance, Lowe syndrome; Dent disease type 2
- I55T (p.Ile55Thr), rs1278754966, ClinGen CA414550576, ClinVar RCV001923435, ClinVar RCV002491889, REVEL 0.25, MetaLR 0.63, Uncertain significance, Lowe syndrome; Dent disease type 2
- I55V (p.Ile55Val), rs989911294, ClinGen CA335077985, ClinVar RCV002914907, TOPMed rs989911294, REVEL 0.16, MetaLR 0.55, Uncertain significance, Lowe syndrome; Nephrolithiasis/nephrocalcinosis
- I55I (p.Ile55Ile), gnomAD X-129545003-C-A, CADD 11.70
- I56V (p.Ile56Val), rs1239599814, ClinGen CA414550581, ClinVar RCV004200291, TOPMed rs1239599814, REVEL 0.24, MetaLR 0.66, Uncertain significance, Nephrolithiasis/nephrocalcinosis
- I56F (p.Ile56Phe), gnomAD X-129545004-A-T, REVEL 0.51, MetaLR 0.80
- I56T (p.Ile56Thr), gnomAD X-129545005-T-C, REVEL 0.69, MetaLR 0.86
- I56I (p.Ile56Ile), gnomAD X-129545006-T-C, CADD 12.10
- P57S (p.Pro57Ser), gnomAD X-129545007-C-T, REVEL 0.63, MetaLR 0.74
- P57T (p.Pro57Thr), gnomAD X-129545007-C-A, REVEL 0.73, MetaLR 0.82
- P57H (p.Pro57His), gnomAD X-129545008-C-A, REVEL 0.83, MetaLR 0.86
- P57P (p.Pro57Pro), gnomAD X-129545009-T-C, CADD 13.10
Public OCRL analysis runs
- OCRL analysis run — OCRL (885 variants) — completed 2026-08-20