PDE6B (P35913) variants and mutations
PDE6B (also known as P35913) is a human protein-coding gene encoding a rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta protein. It hydrolyzes cyclic GMP after light activation in rod photoreceptors, causing cyclic-nucleotide-gated channels to close and initiating the electrical visual response. Biallelic loss-of-function variants cause retinitis pigmentosa, while certain variants can cause congenital stationary night blindness. This analysis covers 1,603 PDE6B variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes retinitis pigmentosa, congenital stationary night blindness, and Retinal dystrophy. Example PDE6B variants include M1I, M1V, and S2I.
Variant analysis overview
- Gene: PDE6B
- Protein: P35913
- UniProt accession: P35913
- Organism: Homo sapiens
- Variants analyzed: 1603
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 1,274 unspecified-consequence records; 163 missense variants; 23 frameshift variants; 121 synonymous variants; 15 stop-gained variants; 5 in-frame deletions; 2 splice-region variants; 2 substitution
- Prediction scores: 1,291 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: retinitis pigmentosa, congenital stationary night blindness, Retinal dystrophy, coronary artery disorder, stroke disorder, autosomal recessive retinitis pigmentosa, cardiovascular disorder, intermittent vascular claudication, Posterior column ataxia - retinitis pigmentosa, inherited retinal dystrophy, Cone rod dystrophy, Recurrent thrombophlebitis.
Protein structure and variant hotspots
- Protein features: 3 domains; 15 binding sites; 1 post-translational modification sites.
- Structural context: 1,305 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable PDE6B variants
Examples include M1I, M1V, S2I, S2R, L3F, S4I, S4N, S4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1734048235, ClinGen CA355905793, ClinVar RCV001201412, Uncertain significance, not provided
- M1V (p.Met1Val), rs781003757, ClinGen CA2793817, ClinVar RCV000504868, ClinVar RCV005869533, Uncertain significance, not provided
- S2I (p.Ser2Ile), Ensembl rs1734048484
- S2R (p.Ser2Arg), gnomAD 4-625632-C-A, REVEL 0.15, CADD 21.80
- L3F (p.Leu3Phe), gnomAD 4-625633-C-T, REVEL 0.10, CADD 19.20
- S4I (p.Ser4Ile), ESP rs369501371, ExAC rs369501371, TOPMed rs369501371, gnomAD rs369501371, REVEL 0.12, MetaLR 0.23
- S4N (p.Ser4Asn), ESP rs369501371, ExAC rs369501371, TOPMed rs369501371, gnomAD rs369501371, REVEL 0.06, MetaLR 0.19, Uncertain significance, not provided
- S4R (p.Ser4Arg), gnomAD 4-625635-CAGTG-C, CADD 23.20
- S4S (p.Ser4Ser), gnomAD 4-625638-T-C, CADD 0.62
- E5K (p.Glu5Lys), Ensembl rs898928851, REVEL 0.11, MetaLR 0.07
- E5E (p.Glu5Glu), gnomAD 4-625641-G-A, CADD 4.38
- Q7R (p.Gln7Arg), 1000Genomes rs769821115, ExAC rs769821115, gnomAD rs769821115, REVEL 0.04, MetaLR 0.18, Uncertain significance, not provided
- Q7K (p.Gln7Lys), gnomAD 4-625645-C-A, REVEL 0.06, CADD 11.60
- Q7H (p.Gln7His), gnomAD 4-625647-G-C, REVEL 0.10, CADD 12.60
- A8P (p.Ala8Pro), ExAC rs750974030, gnomAD rs750974030
- A8T (p.Ala8Thr), ExAC rs750974030, gnomAD rs750974030, REVEL 0.16, MetaLR 0.20, Uncertain significance, Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa
- A8V (p.Ala8Val), rs762518208, ClinGen CA2793821, ClinVar RCV002667736, ClinVar RCV005455576, REVEL 0.07, MetaLR 0.04, Conflicting interpretations, Inborn genetic diseases; not provided
- A8S (p.Ala8Ser), gnomAD 4-625648-G-T, REVEL 0.19, CADD 21.30
- A8D (p.Ala8Asp), gnomAD 4-625649-C-A, REVEL 0.20, CADD 17.80
- R9G (p.Arg9Gly), 1000Genomes rs140441389, ESP rs140441389, ExAC rs140441389, TOPMed rs140441389, Likely benign
- R9P (p.Arg9Pro), 1000Genomes rs76755568, ESP rs76755568, ExAC rs76755568, TOPMed rs76755568, REVEL 0.16, MetaLR 0.12, Benign
- R9Q (p.Arg9Gln), rs76755568, ClinGen CA2793823, ClinVar RCV000965664, 1000Genomes rs76755568, REVEL 0.03, MetaLR 0.04, Benign, not provided
- R9W (p.Arg9Trp), rs140441389, ClinGen CA2793822, ClinVar RCV001243720, ClinVar RCV002568571, REVEL 0.14, MetaLR 0.19, Conflicting interpretations, not provided; Inborn genetic diseases
- R9R (p.Arg9Arg), gnomAD 4-625651-C-A, CADD 6.02
- R9L (p.Arg9Leu), gnomAD 4-625652-G-T, REVEL 0.05, CADD 15.80
- S10S (p.Ser10Ser), rs759139144, gnomAD 4-625656-C-T, CADD 1.44
- F11L (p.Phe11Leu), ExAC rs764396309, gnomAD rs764396309, Uncertain significance, not provided
- F11V (p.Phe11Val), ExAC rs764396309, gnomAD rs764396309, REVEL 0.54, MetaLR 0.43
- F11W (p.Phe11Trp), gnomAD 4-625655-GCTTT-G, CADD 23.90
- F11C (p.Phe11Cys), gnomAD 4-625658-T-G, REVEL 0.58, CADD 23.70
- F11F (p.Phe11Phe), rs754268106, gnomAD 4-625659-T-C, CADD 6.11
- L12L (p.Leu12Leu), rs1214102881, gnomAD 4-625660-C-T, CADD 4.27
- L12Q (p.Leu12Gln), gnomAD 4-625661-T-A, REVEL 0.72, CADD 24.40
- D13E (p.Asp13Glu), ExAC rs762059087, gnomAD rs762059087, REVEL 0.04, MetaLR 0.10
- D13G (p.Asp13Gly), TOPMed rs1734050687, gnomAD rs1734050687, REVEL 0.36, MetaLR 0.25
- D13N (p.Asp13Asn), rs1285867711, NCI-TCGA Cosmic COSV9972, cosmic curated COSV99728, TOPMed rs1285867711, REVEL 0.13, MetaLR 0.19, Variant assessed as somatic; moderate impact.
- Q14R (p.Gln14Arg), gnomAD 4-625667-A-G, REVEL 0.08, CADD 10.60
- N15T (p.Asn15Thr), ExAC rs765828124, gnomAD rs765828124, REVEL 0.47, MetaLR 0.49
- N15Y (p.Asn15Tyr), gnomAD 4-625669-A-T, REVEL 0.55, CADD 23.60
- P16A (p.Pro16Ala), rs1360629462, ClinGen CA355905968, ClinVar RCV002023507, TOPMed rs1360629462, REVEL 0.35, MetaLR 0.37, Uncertain significance, not provided
- P16T (p.Pro16Thr), NCI-TCGA Cosmic COSV5532, cosmic curated COSV55327, Variant assessed as somatic; moderate impact.
- P16P (p.Pro16Pro), rs147759031, gnomAD 4-625674-C-T, CADD 0.45
- D17N (p.Asp17Asn), rs866891056, ClinGen CA91051729, ClinVar RCV002012877, ClinVar RCV005704845, REVEL 0.07, MetaLR 0.11, Uncertain significance, Inborn genetic diseases; not provided
- D17V (p.Asp17Val), ExAC rs758552173, gnomAD rs758552173, REVEL 0.07, MetaLR 0.14
- D17Y (p.Asp17Tyr), rs866891056, ClinGen CA355905981, ClinVar RCV002303291, Uncertain significance, not provided
- D17H (p.Asp17His), gnomAD 4-625675-G-C, REVEL 0.10, CADD 0.14
- D17E (p.Asp17Glu), gnomAD 4-625677-T-A, REVEL 0.05, CADD 0.12
- D17D (p.Asp17Asp), gnomAD 4-625677-T-C, CADD 1.50
- F18L (p.Phe18Leu), gnomAD 4-625678-T-C, REVEL 0.43, CADD 23.80
- A19S (p.Ala19Ser), rs201287238, ClinGen CA2793831, ClinVar RCV001234218, ClinVar RCV002563810, REVEL 0.12, MetaLR 0.27, Uncertain significance, not provided; Inborn genetic diseases
- A19V (p.Ala19Val), ExAC rs751865604, gnomAD rs751865604, REVEL 0.13, MetaLR 0.22
- A19P (p.Ala19Pro), gnomAD 4-625681-G-C, REVEL 0.25, CADD 15.80
- A19A (p.Ala19Ala), rs1429310895, gnomAD 4-625683-C-T, CADD 0.79
- R20C (p.Arg20Cys), rs558368752, ClinGen CA2793833, cosmic curated COSV55327, ClinVar RCV001229038, REVEL 0.15, MetaLR 0.16, Uncertain significance, not provided
- R20H (p.Arg20His), rs781251175, ClinGen CA2793834, cosmic curated COSV55327, ClinVar RCV001151130, REVEL 0.18, MetaLR 0.09, Conflicting interpretations, Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2
- R20L (p.Arg20Leu), cosmic curated COSV55330, ExAC rs781251175, TOPMed rs781251175, gnomAD rs781251175, REVEL 0.20, MetaLR 0.08, Likely benign
- Q21P (p.Gln21Pro), Ensembl rs1734052424
- Q21S (p.Gln21Ser), gnomAD 4-625685-GC-G, CADD 22.10
- F23L (p.Phe23Leu), gnomAD 4-625693-T-C, REVEL 0.41, CADD 24.00
- G24A (p.Gly24Ala), rs1339216331, ClinGen CA355906072, ClinVar RCV001226474, TOPMed rs1339216331, REVEL 0.10, MetaLR 0.13, Uncertain significance, not provided
- G24G (p.Gly24Gly), rs868606476, gnomAD 4-625698-G-A, CADD 7.38
- K25R (p.Lys25Arg), rs748035218, ClinGen CA2793835, ClinVar RCV002915412, ClinVar RCV003708714, REVEL 0.12, MetaLR 0.15, Uncertain significance, Inborn genetic diseases; not provided
- K26Q (p.Lys26Gln), ExAC rs769473166, TOPMed rs769473166, gnomAD rs769473166, REVEL 0.12, MetaLR 0.23, Uncertain significance, not provided
- L27Q (p.Leu27Gln), ExAC rs777693058, TOPMed rs777693058, gnomAD rs777693058, REVEL 0.27, MetaLR 0.47
- L27R (p.Leu27Arg), gnomAD 4-625706-T-G, REVEL 0.33, CADD 25.40
- L27P (p.Leu27Pro), gnomAD 4-625706-T-C, REVEL 0.45, CADD 25.80
- S28R (p.Ser28Arg), gnomAD rs1436573548, REVEL 0.08, MetaLR 0.10
- S28N (p.Ser28Asn), gnomAD 4-625709-G-A, REVEL 0.10, CADD 22.20
- S28S (p.Ser28Ser), gnomAD 4-625710-C-T, CADD 8.99
- P29R (p.Pro29Arg), rs749166835, ClinGen CA2793838, ClinVar RCV003850886, ExAC rs749166835, REVEL 0.20, MetaLR 0.28, Uncertain significance, not provided
- P29P (p.Pro29Pro), gnomAD 4-625713-T-C, CADD 0.59
- E30K (p.Glu30Lys), Ensembl rs1553801522, REVEL 0.14, MetaLR 0.24, Conflicting interpretations, not provided; Retinitis pigmentosa 40
- E30V (p.Glu30Val), Ensembl rs1734054087
- E30D (p.Glu30Asp), gnomAD 4-625716-G-C, REVEL 0.04, CADD 8.58
- N31K (p.Asn31Lys), rs770449748, ClinGen CA2793839, ClinVar RCV001881415, ExAC rs770449748, REVEL 0.02, MetaLR 0.15, Uncertain significance, not provided
- N31Y (p.Asn31Tyr), gnomAD 4-625717-A-T, REVEL 0.15, CADD 1.24
- N31N (p.Asn31Asn), gnomAD 4-625719-T-C, CADD 3.32
- V32E (p.Val32Glu), rs2474072610, ClinGen CA355906151, ClinVar RCV003860921, Uncertain significance, not provided
- A33T (p.Ala33Thr), NCI-TCGA Cosmic COSV5532, cosmic curated COSV55325, Variant assessed as somatic; moderate impact.
- A33V (p.Ala33Val), cosmic curated COSV55330, TOPMed rs1577233509
- A33A (p.Ala33Ala), rs1238383592, gnomAD 4-625725-C-T, CADD 0.27
- A34P (p.Ala34Pro), rs182545478, ClinGen CA355906158, ClinVar RCV001906261, 1000Genomes rs182545478, REVEL 0.14, MetaLR 0.25, Uncertain significance, not provided
- A34T (p.Ala34Thr), rs182545478, ClinGen CA2793840, cosmic curated COSV10730, ClinVar RCV002756605, REVEL 0.04, MetaLR 0.12, Uncertain significance, Inborn genetic diseases; not provided
- A34V (p.Ala34Val), rs148829093, ClinGen CA2793841, ClinVar RCV000964955, ClinVar RCV002489380, REVEL 0.03, MetaLR 0.10, Benign/Likely benign, not provided; Congenital stationary night blindness autosomal dominant 2; Retini
- A34A (p.Ala34Ala), rs142437453, gnomAD 4-625728-G-A, CADD 0.08
- A35D (p.Ala35Asp), gnomAD 4-625730-C-A, REVEL 0.13, CADD 11.50
- C36S (p.Cys36Ser), NCI-TCGA Cosmic COSV5533, cosmic curated COSV55332, Variant assessed as somatic; moderate impact.
- C36Y (p.Cys36Tyr), gnomAD 4-625733-G-A, REVEL 0.08, CADD 2.04
- C36C (p.Cys36Cys), rs529215515, gnomAD 4-625734-C-T, CADD 0.76
- E37G (p.Glu37Gly), rs1208473466, ClinGen CA355906178, ClinVar RCV001151134, ClinVar RCV001154204, Uncertain significance, Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2
- E37K (p.Glu37Lys), rs376908835, ClinGen CA2793844, cosmic curated COSV55324, ClinVar RCV001151132, REVEL 0.11, MetaLR 0.15, Uncertain significance, Inborn genetic diseases; Retinitis pigmentosa; Congenital stationary night blind
- E37Q (p.Glu37Gln), gnomAD 4-625735-G-C, REVEL 0.09, CADD 7.92
- E37A (p.Glu37Ala), gnomAD 4-625736-A-C, REVEL 0.03, CADD 3.44
- E37E (p.Glu37Glu), gnomAD 4-625737-G-A, CADD 0.55
- D38G (p.Asp38Gly), gnomAD rs1734055830
- D38N (p.Asp38Asn), rs1734055708, ClinGen CA355906183, ClinVar RCV002302040, TOPMed rs1734055708, Uncertain significance, not provided
- D38D (p.Asp38Asp), rs371572108, gnomAD 4-625740-C-T, CADD 0.05
- G39A (p.Gly39Ala), TOPMed rs1479762379, gnomAD rs1479762379
- G39E (p.Gly39Glu), TOPMed rs1479762379, gnomAD rs1479762379
- G39R (p.Gly39Arg), rs151334566, ClinGen CA2793846, ClinVar RCV001912800, ClinVar RCV002554286, REVEL 0.06, MetaLR 0.13, Uncertain significance, not provided
- G39W (p.Gly39Trp), ESP rs151334566, ExAC rs151334566, TOPMed rs151334566, gnomAD rs151334566, Likely benign
- G39G (p.Gly39Gly), rs140538420, gnomAD 4-625743-G-A, CADD 0.19
- C40G (p.Cys40Gly), TOPMed rs1577233563
- C40S (p.Cys40Ser), TOPMed rs1577233563, REVEL 0.04, MetaLR 0.06
- P41L (p.Pro41Leu), rs1231216242, ClinGen CA355906208, cosmic curated COSV10960, ClinVar RCV003181448, REVEL 0.06, MetaLR 0.13, Likely benign, Inborn genetic diseases
- P41R (p.Pro41Arg), rs1231216242, NCI-TCGA TCGA novel, ClinGen CA355906209, ClinVar RCV001307660, Uncertain significance, not provided
- P41T (p.Pro41Thr), NCI-TCGA Cosmic COSV5532, Variant assessed as somatic; moderate impact.
- P41P (p.Pro41Pro), rs113459274, gnomAD 4-625749-G-A, CADD 0.18
- P42L (p.Pro42Leu), rs751741141, ClinGen CA2793849, ClinVar RCV002650182, ClinVar RCV003365766, REVEL 0.05, MetaLR 0.11, Uncertain significance, Inborn genetic diseases; not provided
- P42Q (p.Pro42Gln), NCI-TCGA Cosmic COSV5533, cosmic curated COSV55330, Variant assessed as somatic; moderate impact.
- P42T (p.Pro42Thr), gnomAD rs949398735, REVEL 0.04, MetaLR 0.09
- P42P (p.Pro42Pro), rs533513647, gnomAD 4-625752-G-A, CADD 1.58
- D43V (p.Asp43Val), Ensembl rs2109112870
- D43Y (p.Asp43Tyr), gnomAD rs1405391370, REVEL 0.35, MetaLR 0.40
- D43N (p.Asp43Asn), gnomAD 4-625753-G-A, REVEL 0.18, CADD 17.80
- D43A (p.Asp43Ala), gnomAD 4-625754-A-C, REVEL 0.11, CADD 0.29
- C44* (p.Cys44Ter), 1000Genomes rs199974771, ExAC rs199974771, TOPMed rs199974771, gnomAD rs199974771, Benign
- C44W (p.Cys44Trp), rs199974771, ClinGen CA200297, ClinVar RCV000173098, ClinVar RCV000337389, REVEL 0.13, MetaLR 0.13, Conflicting interpretations, not provided; not specified; Retinitis pigmentosa
- C44R (p.Cys44Arg), gnomAD 4-625756-T-C, REVEL 0.03, CADD 7.34
- C44C (p.Cys44Cys), rs199974771, gnomAD 4-625758-C-T, CADD 0.87
- D45N (p.Asp45Asn), rs138423108, ClinGen CA2793852, cosmic curated COSV10505, ClinVar RCV000298325, REVEL 0.04, MetaLR 0.10, Conflicting interpretations, not provided; Retinal dystrophy; Retinitis pigmentosa
- D45Y (p.Asp45Tyr), gnomAD 4-625759-G-T, REVEL 0.11, CADD 0.20
- S46R (p.Ser46Arg), ExAC rs749254565, TOPMed rs749254565, gnomAD rs749254565, REVEL 0.07, MetaLR 0.21
- S46T (p.Ser46Thr), ExAC rs777494853, gnomAD rs777494853, REVEL 0.03, MetaLR 0.11
- S46G (p.Ser46Gly), gnomAD 4-625762-A-G, REVEL 0.17, CADD 17.30
- S46N (p.Ser46Asn), gnomAD 4-625763-G-A, REVEL 0.08, CADD 11.40
- S46S (p.Ser46Ser), rs749254565, gnomAD 4-625764-C-T, CADD 3.34
- L47F (p.Leu47Phe), rs1378109538, ClinGen CA355906245, ClinVar RCV001925787, TOPMed rs1378109538, REVEL 0.06, MetaLR 0.05, Uncertain significance, not provided
- L47P (p.Leu47Pro), TOPMed rs1398286912
- R48Q (p.Arg48Gln), rs113842820, ClinGen CA228883, cosmic curated COSV55327, ClinVar RCV000086942, REVEL 0.10, MetaLR 0.01, Benign/Likely benign, not specified; not provided; Retinitis pigmentosa
- R48W (p.Arg48Trp), rs191195745, ClinGen CA2793856, cosmic curated COSV10505, ClinVar RCV001235848, REVEL 0.17, MetaLR 0.27, Conflicting interpretations, Inborn genetic diseases; not provided
- R48L (p.Arg48Leu), gnomAD 4-625769-G-T, REVEL 0.13, CADD 13.30
- R48R (p.Arg48Arg), rs145067855, gnomAD 4-625770-G-A, CADD 0.12
- D49E (p.Asp49Glu), TOPMed rs1198246370, gnomAD rs1198246370
- D49G (p.Asp49Gly), gnomAD rs1316203326, REVEL 0.13, MetaLR 0.15
- D49N (p.Asp49Asn), 1000Genomes rs79826315, ESP rs79826315, ExAC rs79826315, TOPMed rs79826315, REVEL 0.12, MetaLR 0.19, Benign
- D49Y (p.Asp49Tyr), rs79826315, ClinGen CA292718, ClinVar RCV000127395, ClinVar RCV000271035, REVEL 0.12, MetaLR 0.08, Benign/Likely benign, Retinal dystrophy; not specified; not provided
- D49D (p.Asp49Asp), rs1198246370, gnomAD 4-625773-C-T, CADD 4.60
- L50F (p.Leu50Phe), Ensembl rs865898283
- L50R (p.Leu50Arg), Ensembl rs1734060111
- L50P (p.Leu50Pro), gnomAD 4-625775-T-C, REVEL 0.49, CADD 22.70
- L50L (p.Leu50Leu), gnomAD 4-625776-C-T, CADD 3.90
- Q52K (p.Gln52Lys), gnomAD 4-625780-C-A, REVEL 0.07, CADD 16.30
- Q52* (p.Gln52Ter), gnomAD 4-625780-C-T, CADD 38.00
- Q52R (p.Gln52Arg), gnomAD 4-625781-A-G, REVEL 0.11, CADD 18.30
- V53A (p.Val53Ala), ExAC rs746580719, TOPMed rs746580719, gnomAD rs746580719, REVEL 0.14, MetaLR 0.26
- V53G (p.Val53Gly), ExAC rs746580719, TOPMed rs746580719, gnomAD rs746580719, REVEL 0.42, MetaLR 0.36
- V53M (p.Val53Met), TOPMed rs267600200
- V53V (p.Val53Val), gnomAD 4-625785-G-A, CADD 8.21
- E54K (p.Glu54Lys), rs1173402643, gnomAD rs1173402643, REVEL 0.38, MetaLR 0.41, Variant assessed as somatic; moderate impact.
- E54V (p.Glu54Val), Ensembl rs1734060731
- E54* (p.Glu54Ter), gnomAD 4-625786-G-T, CADD 39.00
- p.Glu54 Ile70delinsVal, gnomAD 4-625786-GAGGAGAG, CADD 18.60
- E55D (p.Glu55Asp), rs770318126, ClinGen CA2793859, ClinVar RCV001214987, ClinVar RCV006372246, REVEL 0.47, MetaLR 0.56, Uncertain significance, Inborn genetic diseases; not provided
- E55del (p.Glu55del), rs2109112982, gnomAD 4-625784-TGGA-T, CADD 17.30
- E55* (p.Glu55Ter), gnomAD 4-625789-G-T, CADD 42.00
- S56N (p.Ser56Asn), gnomAD 4-625793-G-A, REVEL 0.22, CADD 23.40
- S56R (p.Ser56Arg), gnomAD 4-625794-C-G, REVEL 0.38, CADD 12.60
- T57M (p.Thr57Met), rs149359860, ClinGen CA2793860, ClinVar RCV000309731, ClinVar RCV000362223, REVEL 0.18, MetaLR 0.08, Conflicting interpretations, not provided; Retinitis pigmentosa; Congenital stationary night blindness autoso
- T57T (p.Thr57Thr), rs763391072, gnomAD 4-625797-G-A, CADD 0.82
- A58V (p.Ala58Val), rs200898108, ClinGen CA2793863, cosmic curated COSV55324, ClinVar RCV001207751, REVEL 0.11, MetaLR 0.15, Uncertain significance, not provided
- A58A (p.Ala58Ala), gnomAD 4-625800-G-T, CADD 0.32
- L59Q (p.Leu59Gln), gnomAD rs749588111, REVEL 0.74, MetaLR 0.63
- L59L (p.Leu59Leu), rs1464711872, gnomAD 4-625803-G-A, CADD 3.14
- L60P (p.Leu60Pro), ExAC rs759667480, TOPMed rs759667480, gnomAD rs759667480, REVEL 0.51, MetaLR 0.42
- L60Q (p.Leu60Gln), ExAC rs759667480, TOPMed rs759667480, gnomAD rs759667480, REVEL 0.46, MetaLR 0.42
- L60L (p.Leu60Leu), gnomAD 4-625804-C-T, CADD 4.57
- E61* (p.Glu61Ter), rs767438881, ClinGen CA2793865, ClinVar RCV001075048, ClinVar RCV003117739, CADD 40.00, Pathogenic
- E61E (p.Glu61Glu), rs752986583, gnomAD 4-625809-G-A, CADD 6.56
- L62P (p.Leu62Pro), ExAC rs756249591, gnomAD rs756249591, REVEL 0.78, MetaLR 0.60
- L62V (p.Leu62Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L62A (p.Leu62Ala), gnomAD 4-625808-A-AG, CADD 25.40
- L62M (p.Leu62Met), gnomAD 4-625810-C-A, REVEL 0.21, CADD 17.00
- L62L (p.Leu62Leu), gnomAD 4-625812-G-C, CADD 7.32
- V63L (p.Val63Leu), rs2474073447, ClinGen CA355906337, ClinVar RCV003709869, REVEL 0.15, MetaLR 0.16, Uncertain significance, not provided
- V63M (p.Val63Met), gnomAD 4-625813-G-A, REVEL 0.12, CADD 22.60
- V63V (p.Val63Val), rs945914232, gnomAD 4-625815-G-A, CADD 6.61
- Q64H (p.Gln64His), rs1340296893, ClinGen CA355906355, ClinVar RCV001990740, TOPMed rs1340296893, REVEL 0.14, MetaLR 0.33, Uncertain significance, not provided
- Q64R (p.Gln64Arg), TOPMed rs1323556975, gnomAD rs1323556975, REVEL 0.10, MetaLR 0.16
- Q64L (p.Gln64Leu), gnomAD 4-625817-A-T, REVEL 0.21, CADD 19.20
Public PDE6B analysis runs
- PDE6B analysis run — PDE6B (1,603 variants) — completed 2026-08-22