REN (Renin) variants and mutations
REN (also known as Renin) is a human protein-coding gene encoding a renin protein. It initiates the renin-angiotensin cascade by cleaving angiotensinogen, thereby controlling blood pressure, sodium balance, and extracellular fluid volume. Pathogenic variants can cause renal tubular dysgenesis or rare inherited tubulointerstitial kidney disease depending on their effect on renin production. This analysis covers 627 REN variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes familial juvenile hyperuricemic nephropathy type 2, renal tubular dysgenesis, and renal tubular dysgenesis of genetic origin. Example REN variants include G3E, G3V, and R5G.
Variant analysis overview
- Gene: REN
- Protein: Renin
- UniProt accession: P00797
- Organism: Homo sapiens
- Variants analyzed: 627
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 433 unspecified-consequence records; 1 stop retained variant; 81 missense variants; 78 synonymous variants; 17 frameshift variants; 4 stop-gained variants; 4 splice-region variants; 4 in-frame deletions; 1 in-frame insertions; 4 substitution
- Prediction scores: 578 variants have prediction scores (92% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial juvenile hyperuricemic nephropathy type 2, renal tubular dysgenesis, renal tubular dysgenesis of genetic origin, Hyperuricemia - anemia - renal failure, hypertensive disorder, Hypertension, stroke disorder, essential hypertension, hereditary disease, cardiovascular disorder, congenital anomaly of kidney and urinary tract, diabetes mellitus.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 post-translational modification sites.
- Structural context: 523 variants have structural context.
- PTM context: 2 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 REN variants
Examples include G3E, G3V, R5G, R6K, R6S, M7I, M7L, P8A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- G3E (p.Gly3Glu), rs769289753, ClinGen CA1345094, ClinVar RCV003550691, ExAC rs769289753, REVEL 0.05, AlphaMissense 0.08, Uncertain significance, not provided
- G3V (p.Gly3Val), rs769289753, ClinGen CA344343112, ClinVar RCV003033953, AlphaMissense 0.08, MetaLR 0.09, Uncertain significance, not provided
- R5G (p.Arg5Gly), ExAC rs775844948, gnomAD rs775844948, REVEL 0.05, MetaLR 0.08
- R6K (p.Arg6Lys), rs753328645, ClinGen CA1345091, ClinVar RCV003831237, ClinVar RCV005015015, REVEL 0.04, MetaLR 0.09, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of
- R6S (p.Arg6Ser), gnomAD rs1392033638, REVEL 0.20, MetaLR 0.10, Likely benign
- M7I (p.Met7Ile), Ensembl rs1658348144, REVEL 0.25, MetaLR 0.10
- M7L (p.Met7Leu), ExAC rs746180535, TOPMed rs746180535, gnomAD rs746180535, REVEL 0.22, MetaLR 0.09
- P8A (p.Pro8Ala), rs61746500, ClinGen CA1345089, ClinVar RCV000318852, ClinVar RCV000375769, REVEL 0.09, MetaLR 0.06, Benign/Likely benign, Renal tubular dysgenesis; not specified; Kidney disorder
- P8T (p.Pro8Thr), 1000Genomes rs61746500, ESP rs61746500, ExAC rs61746500, TOPMed rs61746500, SIFT 0.15, Benign
- R9C (p.Arg9Cys), rs115181548, ClinGen CA1345087, NCI-TCGA Cosmic COSV6581, ClinVar RCV003060570, REVEL 0.05, MetaLR 0.08, Uncertain significance, not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- R9H (p.Arg9His), rs777899883, ClinGen CA1345086, NCI-TCGA Cosmic COSV6581, ClinVar RCV002790175, REVEL 0.07, MetaLR 0.07, Uncertain significance, Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 2; Ren
- R9L (p.Arg9Leu), ExAC rs777899883, TOPMed rs777899883, gnomAD rs777899883, SIFT 0.35, Uncertain significance
- R9S (p.Arg9Ser), 1000Genomes rs115181548, ExAC rs115181548, TOPMed rs115181548, gnomAD rs115181548, REVEL 0.07, MetaLR 0.08, Uncertain significance
- W10* (p.Trp10Ter), rs1167571128, NCI-TCGA Cosmic COSV9968, ClinGen CA344343070, ClinVar RCV002998663, CADD 37.00, Uncertain significance
- G11R (p.Gly11Arg), NCI-TCGA Cosmic COSV6581, Variant assessed as somatic; moderate impact.
- L12M (p.Leu12Met), gnomAD rs1456036182, REVEL 0.16, MetaLR 0.16
- L12R (p.Leu12Arg), rs2527501173, ClinGen CA344343057, ClinVar RCV003991107, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 2
- L15P (p.Leu15Pro), NCI-TCGA Cosmic COSV9968, SIFT 0.12, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 2
- L16H (p.Leu16His), rs121917743, ClinGen CA344343036, ClinVar RCV000505648, Ensembl rs121917743, AlphaMissense 0.31, MetaLR 0.09, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 2
- L16R (p.Leu16Arg), rs121917743, ClinGen CA256731, ClinVar RCV000014006, UniProt VAR 063770, AlphaMissense 0.31, MetaLR 0.09, Pathogenic, Familial juvenile hyperuricemic nephropathy type 2
- W17C (p.Trp17Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G18S (p.Gly18Ser), Ensembl rs1558246966
- C20R (p.Cys20Arg), rs1658347337, ClinGen CA344343012, ClinVar RCV001281275, ClinVar RCV001879807, AlphaMissense 0.40, MetaLR 0.12, Pathogenic/Likely pathogenic, not provided; Familial juvenile hyperuricemic nephropathy type 2
- T21I (p.Thr21Ile), TOPMed rs1420333399, gnomAD rs1420333399, REVEL 0.07, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- T21N (p.Thr21Asn), TOPMed rs1420333399, gnomAD rs1420333399, REVEL 0.03, MetaLR 0.09
- T21S (p.Thr21Ser), TOPMed rs1420333399, gnomAD rs1420333399, REVEL 0.05, MetaLR 0.08
- L24F (p.Leu24Phe), rs866965047, ClinGen CA35740121, ClinVar RCV003017949, ClinVar RCV005473290, REVEL 0.16, MetaLR 0.13, Uncertain significance, Inborn genetic diseases; not provided
- P25L (p.Pro25Leu), ExAC rs761487063, TOPMed rs761487063, gnomAD rs761487063, REVEL 0.14, MetaLR 0.09
- T26I (p.Thr26Ile), rs2527501083, ClinGen CA344342970, ClinVar RCV003030781, Likely pathogenic, not provided
- D27G (p.Asp27Gly), TOPMed rs1658346752
- D27H (p.Asp27His), Ensembl rs2102317160, SIFT 0.00
- T28N (p.Thr28Asn), ExAC rs763754855, TOPMed rs763754855, gnomAD rs763754855, REVEL 0.01, MetaLR 0.08
- T29A (p.Thr29Ala), NCI-TCGA TCGA novel, REVEL 0.02, MetaLR 0.09, Variant assessed as somatic; moderate impact.
- T29N (p.Thr29Asn), ESP rs368813719, ExAC rs368813719, gnomAD rs368813719, SIFT 0.00
- T30S (p.Thr30Ser), Ensembl rs1558246947, REVEL 0.01, MetaLR 0.09
- F31L (p.Phe31Leu), gnomAD rs1203318715, REVEL 0.09, MetaLR 0.07
- K32T (p.Lys32Thr), rs543353436, ClinGen CA1345074, ClinVar RCV002716301, ClinVar RCV004656971, REVEL 0.06, MetaLR 0.08, Conflicting interpretations, not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- R33=, NCI-TCGA Cosmic COSV6581, Variant assessed as somatic; low impact.
- R33Q (p.Arg33Gln), rs375880823, ClinGen CA1345072, ClinVar RCV002634329, ClinVar RCV005021660, REVEL 0.34, MetaLR 0.20, Uncertain significance, not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- R33W (p.Arg33Trp), rs11571098, ClinGen CA1345073, ClinVar RCV001096287, ClinVar RCV001096288, REVEL 0.35, MetaLR 0.22, Conflicting interpretations, not provided; Familial juvenile hyperuricemic nephropathy type 2; Renal tubular
- K37R (p.Lys37Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M39K (p.Met39Lys), rs1558245626, ClinGen CA344342079, ClinVar RCV000681790, Ensembl rs1558245626, AlphaMissense 0.34, MetaLR 0.14, Likely pathogenic, not provided
- P40S (p.Pro40Ser), TOPMed rs1436346379, gnomAD rs1436346379, REVEL 0.23, MetaLR 0.15
- S41* (p.Ser41Ter), TOPMed rs1211945323
- I42V (p.Ile42Val), TOPMed rs1658258214, REVEL 0.03, MetaLR 0.04
- R43* (p.Arg43Ter), rs397514690, ClinGen CA143703, cosmic curated COSV10640, ClinVar RCV000043472, CADD 36.00, Pathogenic
- R43P (p.Arg43Pro), NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, Variant assessed as somatic; moderate impact.
- R43Q (p.Arg43Gln), NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, TOPMed rs1658258090, REVEL 0.52, MetaLR 0.49, Uncertain significance, not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- S45I (p.Ser45Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K47E (p.Lys47Glu), TOPMed rs1658257989, gnomAD rs1658257989, REVEL 0.03, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- E48D (p.Glu48Asp), ExAC rs748270341, gnomAD rs748270341, REVEL 0.03, MetaLR 0.12
- R49* (p.Arg49Ter), rs121917741, ClinGen CA122846, ClinVar RCV000014003, ClinVar RCV001281274, CADD 37.00, Pathogenic
- R49Q (p.Arg49Gln), ExAC rs768773475, TOPMed rs768773475, gnomAD rs768773475, REVEL 0.06, MetaLR 0.06
- D52H (p.Asp52His), ExAC rs745849711, gnomAD rs745849711, REVEL 0.03, MetaLR 0.07
- M53I (p.Met53Ile), Ensembl rs1658257635
- M53T (p.Met53Thr), gnomAD rs1194228285, REVEL 0.05, MetaLR 0.07
- M53V (p.Met53Val), rs2527493841, ClinGen CA344341946, ClinVar RCV002730524, REVEL 0.01, MetaLR 0.05, Uncertain significance, not provided
- R55S (p.Arg55Ser), rs367565954, ClinGen CA1345045, ClinVar RCV002643015, ESP rs367565954, REVEL 0.13, MetaLR 0.07, Uncertain significance, Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- R55T (p.Arg55Thr), TOPMed rs756019722, gnomAD rs756019722, REVEL 0.06, MetaLR 0.07
- G57D (p.Gly57Asp), gnomAD rs1353997293, REVEL 0.05, MetaLR 0.08
- G57S (p.Gly57Ser), ExAC rs777584055, TOPMed rs777584055, gnomAD rs777584055, REVEL 0.02, MetaLR 0.05
- P58L (p.Pro58Leu), Ensembl rs2102314549
- E59K (p.Glu59Lys), cosmic curated COSV65818, ExAC rs752391620, TOPMed rs752391620, gnomAD rs752391620, REVEL 0.04, MetaLR 0.06
- W60G (p.Trp60Gly), rs764714841, ClinGen CA35737860, ClinVar RCV004445878, ExAC rs764714841, REVEL 0.07, MetaLR 0.10, Uncertain significance, Inborn genetic diseases
- W60R (p.Trp60Arg), ExAC rs764714841, TOPMed rs764714841, gnomAD rs764714841, REVEL 0.10, MetaLR 0.08, Uncertain significance
- S61G (p.Ser61Gly), TOPMed rs1658256884, REVEL 0.02, MetaLR 0.09
- P63R (p.Pro63Arg), TOPMed rs1658256785, SIFT 0.19
- M64K (p.Met64Lys), Ensembl rs1658256605, REVEL 0.11, MetaLR 0.08
- M64L (p.Met64Leu), TOPMed rs1045353423, gnomAD rs1045353423, REVEL 0.04, MetaLR 0.05
- M64V (p.Met64Val), TOPMed rs1045353423, gnomAD rs1045353423, REVEL 0.02, MetaLR 0.05
- R66M (p.Arg66Met), ExAC rs754493054, gnomAD rs754493054, REVEL 0.05, MetaLR 0.09
- L67P (p.Leu67Pro), NCI-TCGA TCGA novel, SIFT 0.00, Variant assessed as somatic; moderate impact.
- T68A (p.Thr68Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T68I (p.Thr68Ile), TOPMed rs920051455, gnomAD rs920051455, REVEL 0.10, MetaLR 0.10, Uncertain significance, Inborn genetic diseases
- L69V (p.Leu69Val), Ensembl rs879144466
- G70D (p.Gly70Asp), ExAC rs773505649, TOPMed rs773505649, gnomAD rs773505649, REVEL 0.04, MetaLR 0.09
- N71D (p.Asn71Asp), ExAC rs767727275, TOPMed rs767727275, gnomAD rs767727275, REVEL 0.15, MetaLR 0.09
- T72N (p.Thr72Asn), rs557010306, ClinGen CA1345032, ClinVar RCV001328255, ClinVar RCV004671308, REVEL 0.04, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- T73I (p.Thr73Ile), ExAC rs768667467, gnomAD rs768667467, SIFT 0.00
- T73N (p.Thr73Asn), ExAC rs768667467, gnomAD rs768667467, REVEL 0.11, MetaLR 0.14
- S74F (p.Ser74Phe), cosmic curated COSV10505, 1000Genomes rs536696119, ExAC rs536696119, TOPMed rs536696119, REVEL 0.04, MetaLR 0.09
- S74Y (p.Ser74Tyr), 1000Genomes rs536696119, ExAC rs536696119, TOPMed rs536696119, gnomAD rs536696119, REVEL 0.07, MetaLR 0.08, Uncertain significance, not provided
- V76M (p.Val76Met), cosmic curated COSV65818, ExAC rs777778258, gnomAD rs777778258, REVEL 0.15, MetaLR 0.14, Uncertain significance, not provided
- I77M (p.Ile77Met), ESP rs141467355, TOPMed rs141467355, gnomAD rs141467355, REVEL 0.03, MetaLR 0.09
- I77S (p.Ile77Ser), rs574100052, ClinGen CA1345024, ClinVar RCV001751880, ClinVar RCV002488532, REVEL 0.10, MetaLR 0.08, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of
- I77T (p.Ile77Thr), 1000Genomes rs574100052, ExAC rs574100052, TOPMed rs574100052, gnomAD rs574100052, REVEL 0.07, MetaLR 0.08, Uncertain significance, not provided
- L78I (p.Leu78Ile), rs1459578412, NCI-TCGA Cosmic COSV9968, cosmic curated COSV99689, gnomAD rs1459578412, AlphaMissense 0.23, MetaLR 0.38, Variant assessed as somatic; moderate impact.
- T79I (p.Thr79Ile), rs778600672, ClinGen CA344341511, ClinVar RCV002301362, REVEL 0.17, MetaLR 0.12, Uncertain significance, not provided
- T79S (p.Thr79Ser), ExAC rs778600672, TOPMed rs778600672, gnomAD rs778600672, REVEL 0.08, MetaLR 0.11, Uncertain significance, Inborn genetic diseases; not provided
- M82K (p.Met82Lys), ESP rs144219651, ExAC rs144219651, TOPMed rs144219651, gnomAD rs144219651, REVEL 0.20, MetaLR 0.13
- T84N (p.Thr84Asn), rs370001090, ClinGen CA1344991, ClinVar RCV003083827, 1000Genomes rs370001090, REVEL 0.18, MetaLR 0.16, Uncertain significance, not provided
- Q85H (p.Gln85His), rs1301244321, ClinGen CA344341422, ClinVar RCV001196049, TOPMed rs1301244321, REVEL 0.56, MetaLR 0.52, Uncertain significance, Renal tubular dysgenesis
- Y86C (p.Tyr86Cys), rs763302196, ClinGen CA1344990, ClinVar RCV002647699, ClinVar RCV004961139, REVEL 0.97, MetaLR 0.78, Uncertain significance, not provided; Inborn genetic diseases
- Y86H (p.Tyr86His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y87H (p.Tyr87His), ExAC rs752956824, gnomAD rs752956824, REVEL 0.65, MetaLR 0.56
- G88S (p.Gly88Ser), rs2527492536, ClinGen CA344341405, ClinVar RCV002794880, REVEL 0.52, MetaLR 0.35, Uncertain significance, not provided
- E89D (p.Glu89Asp), rs886045835, ClinGen CA10608796, ClinVar RCV000266537, ClinVar RCV000305365, REVEL 0.26, MetaLR 0.21, Uncertain significance, Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 2; Ren
- E89K (p.Glu89Lys), rs201438857, ClinGen CA1344986, ClinVar RCV002694971, ClinVar RCV003365773, REVEL 0.39, MetaLR 0.37, Uncertain significance, Inborn genetic diseases; not provided
- I90T (p.Ile90Thr), cosmic curated COSV65817, ExAC rs772001785, gnomAD rs772001785, REVEL 0.82, MetaLR 0.67
- G91D (p.Gly91Asp), gnomAD rs1435136049, REVEL 0.19, MetaLR 0.22
- G93D (p.Gly93Asp), NCI-TCGA TCGA novel, REVEL 0.96, MetaLR 0.94, Variant assessed as somatic; moderate impact.
- G93S (p.Gly93Ser), TOPMed rs1475981961, gnomAD rs1475981961, REVEL 0.95, MetaLR 0.94
- P96S (p.Pro96Ser), TOPMed rs1658243519, REVEL 0.22, MetaLR 0.22
- T98A (p.Thr98Ala), gnomAD rs1363702826, REVEL 0.15, MetaLR 0.17
- V101I (p.Val101Ile), ExAC rs748996008, gnomAD rs748996008, REVEL 0.47, MetaLR 0.48
- V102I (p.Val102Ile), rs1280455872, NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, TOPMed rs1280455872, REVEL 0.07, MetaLR 0.07, Variant assessed as somatic; moderate impact.
- F103S (p.Phe103Ser), gnomAD rs1211712060, REVEL 0.90, MetaLR 0.59
- D104N (p.Asp104Asn), rs868694193, UniProt VAR 035088, gnomAD rs868694193, REVEL 0.89, MetaLR 0.88, Pathogenic, in RTD
- G106A (p.Gly106Ala), rs1658242853, ClinGen CA344341286, ClinVar RCV001096285, ClinVar RCV001096286, AlphaMissense 0.33, MetaLR 0.80, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis
- G106C (p.Gly106Cys), gnomAD rs1294490587, REVEL 0.91, MetaLR 0.88
- S107L (p.Ser107Leu), rs1409715151, ClinGen CA344341280, NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, REVEL 0.90, MetaLR 0.77, Uncertain significance, not provided
- S108A (p.Ser108Ala), rs556759055, ClinGen CA1344979, ClinVar RCV002974286, ClinVar RCV005011164, REVEL 0.13, MetaLR 0.19, Conflicting interpretations, Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- V112A (p.Val112Ala), TOPMed rs1221956054, gnomAD rs1221956054, REVEL 0.89, MetaLR 0.65
- P113S (p.Pro113Ser), gnomAD rs1474773230, REVEL 0.58, MetaLR 0.37
- S115F (p.Ser115Phe), TOPMed rs1658242267, REVEL 0.29, MetaLR 0.31
- S118T (p.Ser118Thr), Ensembl rs2102314001
- R119C (p.Arg119Cys), rs151265393, ClinGen CA1344976, ClinVar RCV002751496, ClinVar RCV002794788, REVEL 0.15, MetaLR 0.15, Uncertain significance, Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- R119H (p.Arg119His), rs376156157, ClinGen CA1344975, cosmic curated COSV65817, ClinVar RCV002650200, REVEL 0.12, MetaLR 0.08, Uncertain significance, not provided; Inborn genetic diseases
- L120P (p.Leu120Pro), gnomAD rs1352971146, REVEL 0.46, MetaLR 0.31
- Y121C (p.Tyr121Cys), gnomAD rs1410855329, REVEL 0.37, MetaLR 0.38
- Y121H (p.Tyr121His), gnomAD rs1170054174, REVEL 0.15, MetaLR 0.15
- T122A (p.Thr122Ala), ExAC rs778261055, TOPMed rs778261055, gnomAD rs778261055, REVEL 0.10, MetaLR 0.07, Uncertain significance, REN-related disorder
- T122I (p.Thr122Ile), Ensembl rs1053348457, REVEL 0.06, MetaLR 0.05
- A123T (p.Ala123Thr), gnomAD rs1186374117, REVEL 0.39, MetaLR 0.24
- A123V (p.Ala123Val), Ensembl rs936271136, SIFT 0.26
- V125A (p.Val125Ala), gnomAD rs1440602112, REVEL 0.03, MetaLR 0.05, Uncertain significance, not provided
- Y126C (p.Tyr126Cys), cosmic curated COSV65817, Ensembl rs200507579, REVEL 0.04, MetaLR 0.08
- H127R (p.His127Arg), ExAC rs779295984, gnomAD rs779295984, REVEL 0.57, MetaLR 0.41
- L129F (p.Leu129Phe), Ensembl rs113595300
- L129H (p.Leu129His), NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, SIFT 0.00, Variant assessed as somatic; moderate impact.
- D131E (p.Asp131Glu), 1000Genomes rs144089286, ESP rs144089286, ExAC rs144089286, TOPMed rs144089286, REVEL 0.15, MetaLR 0.17
- D131N (p.Asp131Asn), rs1422936644, ClinGen CA344339765, NCI-TCGA Cosmic COSV6581, cosmic curated COSV65818, REVEL 0.13, MetaLR 0.14, Uncertain significance, Inborn genetic diseases
- D131Y (p.Asp131Tyr), TOPMed rs1422936644, gnomAD rs1422936644, REVEL 0.35, MetaLR 0.26, Uncertain significance
- A132P (p.Ala132Pro), gnomAD rs1159183586, REVEL 0.08, MetaLR 0.08
- S133L (p.Ser133Leu), rs756122840, ClinGen CA1344947, NCI-TCGA Cosmic COSV9968, cosmic curated COSV99689, REVEL 0.20, MetaLR 0.20, Conflicting interpretations, not provided; Renal tubular dysgenesis; Familial juvenile hyperuricemic nephropa
- S135Y (p.Ser135Tyr), rs397514691, ClinGen CA143705, ClinVar RCV000043473, Ensembl rs397514691, AlphaMissense 0.95, MetaLR 0.80, Pathogenic, Renal tubular dysgenesis
- S136P (p.Ser136Pro), rs762758270, ClinGen CA1344944, ClinVar RCV003851756, ExAC rs762758270, REVEL 0.31, MetaLR 0.32, Uncertain significance, not provided
- K139* (p.Lys139Ter), ExAC rs764873149, TOPMed rs764873149, gnomAD rs764873149, CADD 35.00
- K139R (p.Lys139Arg), TOPMed rs1658227637, REVEL 0.12, MetaLR 0.11
- N141S (p.Asn141Ser), rs776126542, ClinGen CA1344940, ClinVar RCV002599568, ExAC rs776126542, REVEL 0.30, MetaLR 0.19, Uncertain significance, not provided
- G142E (p.Gly142Glu), NCI-TCGA Cosmic COSV6581, cosmic curated COSV65818, SIFT 0.04, Variant assessed as somatic; moderate impact.
- G142R (p.Gly142Arg), NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, REVEL 0.37, MetaLR 0.38, Variant assessed as somatic; moderate impact.
- T143R (p.Thr143Arg), TOPMed rs1356009355, gnomAD rs1356009355, REVEL 0.14, MetaLR 0.11
- E144Q (p.Glu144Gln), ExAC rs770516061, gnomAD rs770516061, REVEL 0.06, MetaLR 0.13
- T146I (p.Thr146Ile), gnomAD rs1658227253, REVEL 0.10, MetaLR 0.09
- T146P (p.Thr146Pro), ExAC rs746464358, gnomAD rs746464358
- L147I (p.Leu147Ile), gnomAD rs1658227171, REVEL 0.12, MetaLR 0.02
- R148C (p.Arg148Cys), rs191049685, ClinGen CA1344937, NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, REVEL 0.20, MetaLR 0.17, Uncertain significance, not provided
- R148H (p.Arg148His), rs371704012, ClinGen CA1344936, cosmic curated COSV99689, ClinVar RCV002294614, REVEL 0.10, MetaLR 0.05, Uncertain significance, Kidney disorder; not provided
- Y149C (p.Tyr149Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y149D (p.Tyr149Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T151A (p.Thr151Ala), NCI-TCGA Cosmic COSV6581, cosmic curated COSV65817, Variant assessed as somatic; moderate impact.
- T151I (p.Thr151Ile), TOPMed rs1229083474, gnomAD rs1229083474, REVEL 0.36, AlphaMissense 0.25, Uncertain significance
- T151K (p.Thr151Lys), rs1229083474, ClinGen CA344339376, ClinVar RCV002295746, TOPMed rs1229083474, AlphaMissense 0.25, MetaLR 0.20, Uncertain significance, not provided
- V154I (p.Val154Ile), gnomAD rs1384871999, REVEL 0.16, MetaLR 0.17
- S155G (p.Ser155Gly), rs1558244998, ClinGen CA344339249, ClinVar RCV002745501, TOPMed rs1558244998, REVEL 0.13, MetaLR 0.13, Uncertain significance, not provided
- L158V (p.Leu158Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S159I (p.Ser159Ile), NCI-TCGA Cosmic COSV9968, cosmic curated COSV99689, Variant assessed as somatic; moderate impact.
- Q160H (p.Gln160His), NCI-TCGA TCGA novel, REVEL 0.24, MetaLR 0.18, Variant assessed as somatic; moderate impact.
- Q160K (p.Gln160Lys), rs11571083, UniProt VAR 029171, Ensembl rs11571083, AlphaMissense 0.10, MetaLR 0.13
- Q160R (p.Gln160Arg), rs367805555, ClinGen CA1344934, ClinVar RCV002669519, ClinVar RCV005059203, REVEL 0.23, MetaLR 0.19, Uncertain significance, not provided; Inborn genetic diseases
- D161G (p.Asp161Gly), ExAC rs755377881, gnomAD rs755377881
- I162T (p.Ile162Thr), ExAC rs749571526, gnomAD rs749571526, REVEL 0.12, MetaLR 0.04
- T164=, NCI-TCGA Cosmic COSV6581, NCI-TCGA Cosmic COSV9968, Variant assessed as somatic; low impact.
- T164N (p.Thr164Asn), ExAC rs780104854, TOPMed rs780104854, gnomAD rs780104854, REVEL 0.15, MetaLR 0.18, Uncertain significance, Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- V165M (p.Val165Met), TOPMed rs1276829651, REVEL 0.38, MetaLR 0.29
- G167E (p.Gly167Glu), cosmic curated COSV65818, Ensembl rs138459586, REVEL 0.44, MetaLR 0.27
- G167R (p.Gly167Arg), cosmic curated COSV10808, TOPMed rs1326333821, gnomAD rs1326333821, REVEL 0.61, MetaLR 0.46
- T169A (p.Thr169Ala), gnomAD rs1166573542, REVEL 0.16, MetaLR 0.10, Uncertain significance, Inborn genetic diseases
- T169M (p.Thr169Met), cosmic curated COSV10955, TOPMed rs776576517, gnomAD rs776576517, REVEL 0.16, MetaLR 0.18, Uncertain significance, Inborn genetic diseases
- Q172* (p.Gln172Ter), cosmic curated COSV10454, ESP rs139795475, TOPMed rs139795475, gnomAD rs139795475, CADD 38.00
- Q172E (p.Gln172Glu), ESP rs139795475, TOPMed rs139795475, gnomAD rs139795475, REVEL 0.64, MetaLR 0.61
- M173I (p.Met173Ile), TOPMed rs1658207388, REVEL 0.14, MetaLR 0.03
- M173T (p.Met173Thr), rs2527487955, ClinGen CA344338655, ClinVar RCV003575929, REVEL 0.11, MetaLR 0.02, Uncertain significance, not provided
- G175E (p.Gly175Glu), TOPMed rs985476332, gnomAD rs985476332, Uncertain significance
- G175V (p.Gly175Val), rs985476332, ClinGen CA35734614, ClinVar RCV003726978, ClinVar RCV004953478, REVEL 0.48, MetaLR 0.40, Uncertain significance, Inborn genetic diseases; not provided
- E176K (p.Glu176Lys), Ensembl rs1658207253, REVEL 0.63, MetaLR 0.48
- T178M (p.Thr178Met), rs147436851, ClinGen CA1344895, cosmic curated COSV10723, ClinVar RCV001928428, REVEL 0.33, MetaLR 0.33, Uncertain significance, not provided; Familial juvenile hyperuricemic nephropathy type 2; Renal tubular
- M180T (p.Met180Thr), ExAC rs775027150, gnomAD rs775027150, REVEL 0.14, MetaLR 0.09
- A182T (p.Ala182Thr), cosmic curated COSV10584, TOPMed rs1457497079, gnomAD rs1457497079, REVEL 0.07, MetaLR 0.07, Uncertain significance, not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
Public REN analysis runs
- REN analysis run — REN (627 variants) — completed 2026-08-20