CNGA1 (P29973) variants and mutations
CNGA1 (also known as P29973) is a human protein-coding gene encoding a cyclic nucleotide-gated channel alpha-1 protein. It forms part of the cyclic-GMP-gated conductance that depolarizes rod photoreceptors in darkness and closes after light activation lowers cGMP. Biallelic loss-of-function variants cause autosomal recessive retinitis pigmentosa with progressive rod-cone degeneration. This analysis covers 1,341 CNGA1 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes retinitis pigmentosa, retinitis pigmentosa 49, and Retinal dystrophy. Example CNGA1 variants include M1?, M1I, and K2N.
Variant analysis overview
- Gene: CNGA1
- Protein: P29973
- UniProt accession: P29973
- Organism: Homo sapiens
- Variants analyzed: 1341
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 922 unspecified-consequence records; 169 synonymous variants; 206 missense variants; 35 frameshift variants; 11 stop-gained variants; 3 in-frame deletions; 2 in-frame insertions; 1 substitution
- Prediction scores: 985 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: retinitis pigmentosa, retinitis pigmentosa 49, Retinal dystrophy, CNGA1-related retinopathy, retinal disorder, Cone rod dystrophy, cone-rod dystrophy, Macular dystrophy, placental retention, sign or symptom, gout, type 2 diabetes mellitus.
Protein structure and variant hotspots
- Protein features: 7 transmembrane segments; 6 binding sites; 1 post-translational modification sites.
- Structural context: 328 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, MaveDB, LitVar.
Notable CNGA1 variants
Examples include M1?, M1I, K2N, N3I, N3S, N4S, I5N, I5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV62053, cosmic curated COSV10065
- M1I (p.Met1Ile), cosmic curated COSV62055, cosmic curated COSV10065
- K2N (p.Lys2Asn), NCI-TCGA Cosmic COSV6205, cosmic curated COSV62054, REVEL 0.11, CADD 25.20, Variant assessed as somatic; moderate impact.
- N3I (p.Asn3Ile), Ensembl rs866375716
- N3S (p.Asn3Ser), rs866375716, ClinGen CA356836809, ClinVar RCV003045152, AlphaMissense 0.15, MetaLR 0.03, Uncertain significance, not provided
- N4S (p.Asn4Ser), rs2110160641, ClinGen CA356836796, ClinVar RCV002010083, Ensembl rs2110160641, REVEL 0.05, CADD 2.93, Uncertain significance, not provided
- I5N (p.Ile5Asn), gnomAD rs1259820486, REVEL 0.04, CADD 22.50, Uncertain significance
- I5T (p.Ile5Thr), rs1259820486, ClinGen CA356836782, ClinVar RCV001231715, gnomAD rs1259820486, REVEL 0.05, CADD 17.10, Uncertain significance, not provided
- I6N (p.Ile6Asn), ExAC rs760929254, gnomAD rs760929254, REVEL 0.10, CADD 24.40
- I6V (p.Ile6Val), rs534317245, ClinGen CA2911404, ClinVar RCV001219951, 1000Genomes rs534317245, REVEL 0.04, CADD 6.82, Uncertain significance, not provided
- Q9H (p.Gln9His), rs552039783, ClinGen CA356836726, ClinVar RCV002776916, Uncertain significance, Inborn genetic diseases
- Q10E (p.Gln10Glu), ExAC rs772481945, TOPMed rs772481945, gnomAD rs772481945, REVEL 0.05, CADD 2.35, Uncertain significance
- Q10K (p.Gln10Lys), rs772481945, ClinGen CA356836721, ClinVar RCV001305694, ExAC rs772481945, REVEL 0.07, CADD 3.36, Uncertain significance, not provided
- F12S (p.Phe12Ser), rs981071919, ClinGen CA96700302, ClinVar RCV001145411, ClinVar RCV004978053, AlphaMissense 0.10, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Retinitis pigmentosa
- V13I (p.Val13Ile), TOPMed rs1202147662
- T14A (p.Thr14Ala), TOPMed rs962604071
- T14I (p.Thr14Ile), TOPMed rs1458520292, gnomAD rs1458520292, REVEL 0.01, CADD 6.76
- P16L (p.Pro16Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N17H (p.Asn17His), ExAC rs774780336, TOPMed rs774780336, gnomAD rs774780336, REVEL 0.03, CADD 22.30
- N17K (p.Asn17Lys), rs748755294, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, ExAC rs748755294, REVEL 0.03, CADD 13.50, Likely benign
- N17S (p.Asn17Ser), ExAC rs768157440, gnomAD rs768157440, REVEL 0.03, CADD 16.30, Uncertain significance, Inborn genetic diseases
- I19T (p.Ile19Thr), ExAC rs779778468, TOPMed rs779778468, gnomAD rs779778468, REVEL 0.07, CADD 17.60
- P21T (p.Pro21Thr), Ensembl rs1034698604
- I23T (p.Ile23Thr), rs2475822893, ClinGen CA356836569, ClinVar RCV002637415, REVEL 0.01, CADD 17.10, Uncertain significance, not provided
- I23V (p.Ile23Val), gnomAD rs1398996857, REVEL 0.03, CADD 15.80
- K25T (p.Lys25Thr), gnomAD rs1379819494, REVEL 0.01, CADD 18.90
- E26G (p.Glu26Gly), cosmic curated COSV10743
- R28Q (p.Arg28Gln), rs76537883, ClinGen CA2911392, ClinVar RCV000398051, ClinVar RCV001511560, REVEL 0.07, CADD 24.80, Conflicting interpretations, not provided; Retinitis pigmentosa
- R29* (p.Arg29Ter), rs199636364, ClinGen CA2911393, cosmic curated COSV62054, ClinVar RCV000662351, Pathogenic
- M30I (p.Met30Ile), rs377132724, ClinGen CA2911390, ClinVar RCV002025181, ClinVar RCV004042484, REVEL 0.08, CADD 21.20, Uncertain significance, Inborn genetic diseases; not provided
- M30V (p.Met30Val), Ensembl rs1578078398
- M30K (p.Met30Lys), cosmic curated COSV10065
- E31K (p.Glu31Lys), cosmic curated COSV62056
- E31Q (p.Glu31Gln), cosmic curated COSV62053
- G33* (p.Gly33Ter), Ensembl rs80034294
- C35* (p.Cys35Ter), rs1237954156, ClinGen CA356836484, ClinVar RCV001075406, ClinVar RCV003442200, CADD 37.00, Pathogenic
- C35R (p.Cys35Arg), Ensembl rs1578078378, REVEL 0.09, CADD 22.80, Uncertain significance, Inborn genetic diseases
- S36G (p.Ser36Gly), gnomAD rs1212211403, REVEL 0.11, CADD 27.90
- S36R (p.Ser36Arg), Ensembl rs1739737676, REVEL 0.12, CADD 16.30
- S37F (p.Ser37Phe), TOPMed rs1300146808, gnomAD rs1300146808, REVEL 0.14, CADD 23.20
- F38S (p.Phe38Ser), ExAC rs777692611, gnomAD rs777692611, REVEL 0.14, CADD 19.30
- S39A (p.Ser39Ala), gnomAD rs1340398264
- S39P (p.Ser39Pro), gnomAD rs1340398264
- S39T (p.Ser39Thr), gnomAD rs1340398264, REVEL 0.08, CADD 23.40
- S39C (p.Ser39Cys), cosmic curated COSV62052
- D42E (p.Asp42Glu), rs758449895, ClinGen CA356835615, ClinVar RCV002869645, REVEL 0.05, CADD 7.49, Uncertain significance, Inborn genetic diseases
- D42N (p.Asp42Asn), TOPMed rs1401884636, gnomAD rs1401884636, REVEL 0.02, CADD 22.30
- D43E (p.Asp43Glu), TOPMed rs1739735649, REVEL 0.05, CADD 13.80
- D43N (p.Asp43Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S44T (p.Ser44Thr), Ensembl rs1739735236, REVEL 0.08, CADD 11.10
- S46P (p.Ser46Pro), rs370181922, ClinGen CA2911369, ClinVar RCV001939737, ESP rs370181922, REVEL 0.13, CADD 24.30, Uncertain significance, not provided
- S46Y (p.Ser46Tyr), Ensembl rs1042383
- T47I (p.Thr47Ile), Ensembl rs2110157901, REVEL 0.02, CADD 1.08
- T47P (p.Thr47Pro), TOPMed rs1304247434
- E49G (p.Glu49Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E50* (p.Glu50Ter), rs2110157889, ClinGen CA356835456, NCI-TCGA Cosmic COSV6205, cosmic curated COSV62054, CADD 36.00, Pathogenic
- E50D (p.Glu50Asp), TOPMed rs942474540
- S51L (p.Ser51Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- S51P (p.Ser51Pro), TOPMed rs906420383, REVEL 0.06, CADD 22.20
- E52D (p.Glu52Asp), NCI-TCGA Cosmic COSV6205, cosmic curated COSV62054, ESP rs375481961, ExAC rs375481961, REVEL 0.03, CADD 5.99, Variant assessed as somatic; moderate impact.
- N53D (p.Asn53Asp), Ensembl rs2110157850, REVEL 0.04, CADD 9.47
- E54K (p.Glu54Lys), NCI-TCGA Cosmic COSV6205, cosmic curated COSV62052, cosmic curated COSV62054, REVEL 0.09, CADD 17.60, Variant assessed as somatic; moderate impact.
- N55D (p.Asn55Asp), Ensembl rs2110157829, REVEL 0.05, CADD 10.10
- N55K (p.Asn55Lys), ExAC rs762187089, TOPMed rs762187089, gnomAD rs762187089, REVEL 0.02, CADD 6.57
- N55T (p.Asn55Thr), Ensembl rs1739733463
- P56L (p.Pro56Leu), TOPMed rs1291858210, gnomAD rs1291858210, REVEL 0.01, CADD 1.05
- P56T (p.Pro56Thr), 1000Genomes rs200810027, ExAC rs200810027, gnomAD rs200810027, REVEL 0.04, CADD 0.56
- P56H (p.Pro56His), cosmic curated COSV10065, TOPMed rs1291858210, gnomAD rs1291858210
- H57Y (p.His57Tyr), rs372341480, ClinGen CA2911363, ClinVar RCV004439817, ClinVar RCV005104613, REVEL 0.04, CADD 5.58, Uncertain significance, Inborn genetic diseases; not provided
- A58P (p.Ala58Pro), gnomAD rs1478506166
- R59K (p.Arg59Lys), cosmic curated COSV10649
- G60C (p.Gly60Cys), rs757969694, ClinGen CA356835227, ClinVar RCV001241314, Ensembl rs757969694, AlphaMissense 0.10, MetaLR 0.05, Uncertain significance, not provided
- G60D (p.Gly60Asp), ESP rs201031527, ExAC rs201031527, TOPMed rs201031527, gnomAD rs201031527, REVEL 0.03, CADD 3.39, Uncertain significance, Retinal dystrophy
- G60S (p.Gly60Ser), Ensembl rs757969694, Uncertain significance
- G60V (p.Gly60Val), rs201031527, ClinGen CA245890, ClinVar RCV000178710, ClinVar RCV000344585, REVEL 0.04, CADD 8.64, Uncertain significance, Inborn genetic diseases; not provided; Retinitis pigmentosa
- S61F (p.Ser61Phe), NCI-TCGA Cosmic COSV6205, cosmic curated COSV62054, Variant assessed as somatic; moderate impact.
- F62S (p.Phe62Ser), Ensembl rs1578076849, REVEL 0.01, CADD 3.16
- S63N (p.Ser63Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S63R (p.Ser63Arg), ExAC rs776048604, gnomAD rs776048604
- Y64* (p.Tyr64Ter), TOPMed rs1739730662
- K65E (p.Lys65Glu), ExAC rs769198976, gnomAD rs769198976, REVEL 0.05, CADD 7.33
- R68G (p.Arg68Gly), TOPMed rs1317730341, gnomAD rs1317730341, REVEL 0.02, CADD 5.67
- K69E (p.Lys69Glu), rs2475816337, ClinGen CA356835026, ClinVar RCV003890933, Uncertain significance, Retinal dystrophy
- K69R (p.Lys69Arg), ExAC rs759049596, TOPMed rs759049596, gnomAD rs759049596, REVEL 0.01, CADD 1.98
- G70R (p.Gly70Arg), ESP rs375993772, ExAC rs375993772, TOPMed rs375993772, gnomAD rs375993772, REVEL 0.03, CADD 6.50
- G70V (p.Gly70Val), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- G71R (p.Gly71Arg), 1000Genomes rs186611254, ExAC rs186611254, gnomAD rs186611254, REVEL 0.05, CADD 10.90
- G71E (p.Gly71Glu), cosmic curated COSV10526, Ensembl rs867446529
- P72L (p.Pro72Leu), rs1369941342, ClinGen CA356834946, ClinVar RCV001990390, gnomAD rs1369941342, AlphaMissense 0.07, MetaLR 0.04, Uncertain significance, not provided
- P72S (p.Pro72Ser), TOPMed rs1315086330, gnomAD rs1315086330, REVEL 0.05, CADD 20.60, Uncertain significance
- P72T (p.Pro72Thr), rs1315086330, ClinGen CA356834955, ClinVar RCV001306296, TOPMed rs1315086330, REVEL 0.02, CADD 17.00, Uncertain significance, not provided
- S73P (p.Ser73Pro), cosmic curated COSV62053, Ensembl rs1739727834
- Q74* (p.Gln74Ter), rs1490804242, ClinVar RCV006476339, TOPMed rs1490804242, gnomAD rs1490804242, CADD 36.00, Pathogenic
- Q74L (p.Gln74Leu), ExAC rs771980222, gnomAD rs771980222, REVEL 0.14, CADD 17.90
- R75W (p.Arg75Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E76* (p.Glu76Ter), rs121909599, ClinGen CA126986, ClinVar RCV000018438, ESP rs121909599, CADD 35.00, Pathogenic
- E76A (p.Glu76Ala), rs898266295, ClinGen CA96698369, ClinVar RCV001240425, TOPMed rs898266295, REVEL 0.05, CADD 14.50, Uncertain significance, not provided
- E76K (p.Glu76Lys), rs121909599, ClinGen CA2911341, ClinVar RCV002287258, ESP rs121909599, REVEL 0.03, CADD 13.00, Uncertain significance, Retinitis pigmentosa 49
- Q77P (p.Gln77Pro), rs1023439906, ClinGen CA96698354, ClinVar RCV002583088, TOPMed rs1023439906, REVEL 0.06, CADD 23.00, Uncertain significance, not provided
- Y78* (p.Tyr78Ter), rs1436425494, ClinGen CA356834547, ClinVar RCV001724853, ClinVar RCV003558851, CADD 36.00, Pathogenic
- P80H (p.Pro80His), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- G81C (p.Gly81Cys), cosmic curated COSV10065
- I83T (p.Ile83Thr), rs370983023, ClinGen CA2911339, ClinVar RCV001203254, ESP rs370983023, REVEL 0.03, CADD 23.50, Uncertain significance, not provided
- A84S (p.Ala84Ser), gnomAD rs1238418426, REVEL 0.16, CADD 23.80
- A84T (p.Ala84Thr), gnomAD rs1238418426
- A84V (p.Ala84Val), ExAC rs760462644, gnomAD rs760462644, REVEL 0.18, CADD 25.20
- L85F (p.Leu85Phe), 1000Genomes rs530208903, ExAC rs530208903, gnomAD rs530208903
- L85V (p.Leu85Val), 1000Genomes rs530208903, ExAC rs530208903, gnomAD rs530208903, REVEL 0.05, CADD 22.20
- F86S (p.Phe86Ser), NCI-TCGA Cosmic COSV6205, cosmic curated COSV62054, Variant assessed as somatic; moderate impact.
- N89Y (p.Asn89Tyr), gnomAD rs1284059893, REVEL 0.15, CADD 25.40
- S91N (p.Ser91Asn), ExAC rs778736952, gnomAD rs778736952, REVEL 0.04, CADD 23.30
- S92G (p.Ser92Gly), rs768687517, ExAC rs768687517, gnomAD rs768687517, REVEL 0.06, CADD 24.60, Variant assessed as somatic; moderate impact.
- S92R (p.Ser92Arg), cosmic curated COSV62053
- N93S (p.Asn93Ser), Ensembl rs1055857820, REVEL 0.11, CADD 23.90
- D95E (p.Asp95Glu), ExAC rs781312301, gnomAD rs781312301, REVEL 0.02, CADD 3.03
- D95N (p.Asp95Asn), ExAC rs749149075, gnomAD rs749149075, REVEL 0.11, CADD 26.20
- D95V (p.Asp95Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D95Y (p.Asp95Tyr), ExAC rs749149075, gnomAD rs749149075, REVEL 0.06, CADD 29.80
- Q96E (p.Gln96Glu), TOPMed rs1560624914, gnomAD rs1560624914, REVEL 0.04, CADD 19.20
- Q96K (p.Gln96Lys), cosmic curated COSV10065, TOPMed rs1560624914, gnomAD rs1560624914
- P98L (p.Pro98Leu), TOPMed rs1023306743, gnomAD rs1023306743, REVEL 0.04, CADD 22.70, Uncertain significance, Inborn genetic diseases
- P98Q (p.Pro98Gln), TOPMed rs1023306743, gnomAD rs1023306743, REVEL 0.04, CADD 19.60
- P98T (p.Pro98Thr), Ensembl rs79647861, REVEL 0.04, CADD 19.90
- E99K (p.Glu99Lys), Ensembl rs1739215299, REVEL 0.03, CADD 16.50
- E100K (p.Glu100Lys), Ensembl rs1739215115, REVEL 0.07, CADD 22.50
- K101N (p.Lys101Asn), cosmic curated COSV10065
- K101E (p.Lys101Glu), ExAC rs766004809, gnomAD rs766004809, REVEL 0.09, CADD 16.60, Uncertain significance, Inborn genetic diseases
- K102N (p.Lys102Asn), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, ExAC rs760198986, gnomAD rs760198986, REVEL 0.03, CADD 21.80, Variant assessed as somatic; moderate impact.
- K104E (p.Lys104Glu), gnomAD rs1357232779, REVEL 0.05, CADD 22.20
- K104N (p.Lys104Asn), gnomAD rs1276261054, REVEL 0.04, CADD 23.70
- K104R (p.Lys104Arg), rs1057518486, ClinGen CA16042567, ClinVar RCV000413649, Ensembl rs1057518486, REVEL 0.02, CADD 19.50, Uncertain significance, not specified
- K105E (p.Lys105Glu), Ensembl rs2110142412
- K106R (p.Lys106Arg), TOPMed rs1398818310, gnomAD rs1398818310, REVEL 0.12, CADD 22.10
- K106T (p.Lys106Thr), TOPMed rs1398818310, gnomAD rs1398818310, REVEL 0.16, CADD 22.80
- E107Q (p.Glu107Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E107R (p.Glu107Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K108R (p.Lys108Arg), rs773033454, ClinGen CA2911320, ClinVar RCV002976715, ClinVar RCV005804659, REVEL 0.10, CADD 22.40, Uncertain significance, Inborn genetic diseases; not provided
- K108T (p.Lys108Thr), ExAC rs773033454, gnomAD rs773033454, REVEL 0.17, CADD 23.50, Uncertain significance
- S110G (p.Ser110Gly), rs952618231, ClinGen CA356832394, ClinVar RCV001326653, TOPMed rs952618231, REVEL 0.03, CADD 23.50, Uncertain significance, not provided
- S110N (p.Ser110Asn), rs1389575721, ClinGen CA356832392, ClinVar RCV003046784, gnomAD rs1389575721, REVEL 0.04, CADD 25.00, Uncertain significance, not provided
- S110R (p.Ser110Arg), Ensembl rs1739206851, REVEL 0.04, CADD 18.70, Uncertain significance, Inborn genetic diseases
- K111N (p.Lys111Asn), Ensembl rs2110142188, REVEL 0.06, CADD 13.60
- S112* (p.Ser112Ter), cosmic curated COSV62054
- S112T (p.Ser112Thr), cosmic curated COSV62055
- D113E (p.Asp113Glu), TOPMed rs1271366557, gnomAD rs1271366557, REVEL 0.03, CADD 15.30
- D113Y (p.Asp113Tyr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Ensembl rs1739206510, REVEL 0.05, CADD 16.30, Variant assessed as somatic; moderate impact.
- D114E (p.Asp114Glu), ExAC rs748314222, gnomAD rs748314222, REVEL 0.04, CADD 8.88
- D114N (p.Asp114Asn), rs28642966, ClinGen CA179889, cosmic curated COSV62052, ClinVar RCV000153037, REVEL 0.09, AlphaMissense 0.06, Benign, Retinitis pigmentosa; not specified; not provided
- D114V (p.Asp114Val), ExAC rs758688361, gnomAD rs758688361, REVEL 0.07, CADD 16.20
- D114Y (p.Asp114Tyr), 1000Genomes rs28642966, ESP rs28642966, ExAC rs28642966, TOPMed rs28642966, REVEL 0.10, AlphaMissense 0.06, Benign
- K115E (p.Lys115Glu), TOPMed rs2070149348
- N116K (p.Asn116Lys), ExAC rs755244560, TOPMed rs755244560, gnomAD rs755244560, REVEL 0.03, CADD 0.14
- E117* (p.Glu117Ter), rs539600817, ClinGen CA356832333, ClinVar RCV002252864, ClinVar RCV003447619, AlphaMissense 0.07, MetaLR 0.06, Likely pathogenic
- E117D (p.Glu117Asp), gnomAD rs1458761447, REVEL 0.03, CADD 17.00
- N118D (p.Asn118Asp), rs28642966, UniProt VAR 047385, AlphaMissense 0.06, MetaLR 0.00
- N118K (p.Asn118Lys), rs766955357, ClinGen CA2911306, ClinVar RCV002709109, ExAC rs766955357, REVEL 0.03, CADD 4.92, Uncertain significance, Inborn genetic diseases
- N118S (p.Asn118Ser), Ensembl rs1298952249, REVEL 0.03, CADD 10.20
- K119R (p.Lys119Arg), ExAC rs755705235, gnomAD rs755705235, REVEL 0.03, CADD 12.90
- N120D (p.Asn120Asp), Ensembl rs2110142050, Uncertain significance
- N120H (p.Asn120His), rs2110142050, ClinGen CA356832313, ClinVar RCV002802440, Ensembl rs2110142050, REVEL 0.04, CADD 16.00, Uncertain significance, Inborn genetic diseases
- N120T (p.Asn120Thr), cosmic curated COSV10649
- N120Y (p.Asn120Tyr), Ensembl rs2110142050, REVEL 0.04, CADD 21.90, Uncertain significance
- D121N (p.Asp121Asn), rs1213631101, ClinGen CA356832305, cosmic curated COSV62052, ClinVar RCV001908596, AlphaMissense 0.07, MetaLR 0.06, Uncertain significance
- P122A (p.Pro122Ala), Ensembl rs868453867, REVEL 0.04, CADD 4.74
- P122T (p.Pro122Thr), Ensembl rs868453867, REVEL 0.03, CADD 6.82
- E123K (p.Glu123Lys), rs539600817, ClinGen CA2911307, cosmic curated COSV62054, ClinVar RCV000348268, AlphaMissense 0.07, MetaLR 0.06, Likely pathogenic
- K124N (p.Lys124Asn), TOPMed rs1247475814, gnomAD rs1247475814, REVEL 0.09, CADD 17.40
- K125E (p.Lys125Glu), TOPMed rs889829783, REVEL 0.02, CADD 18.30
- K125T (p.Lys125Thr), ExAC rs766903165, gnomAD rs766903165, REVEL 0.03, CADD 21.70
- K126N (p.Lys126Asn), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, NCI-TCGA Cosmic COSV6205, Variant assessed as somatic; moderate impact.
- K126Q (p.Lys126Gln), ExAC rs761590177, TOPMed rs761590177, gnomAD rs761590177, REVEL 0.05, CADD 19.40
- K127E (p.Lys127Glu), gnomAD rs1197786545, REVEL 0.09, CADD 21.90
- K127M (p.Lys127Met), rs773862362, ClinGen CA2911301, ClinVar RCV001213147, ExAC rs773862362, REVEL 0.04, CADD 24.40, Uncertain significance, not provided
- K127T (p.Lys127Thr), ExAC rs773862362, TOPMed rs773862362, gnomAD rs773862362, REVEL 0.03, CADD 19.00, Uncertain significance
- K128E (p.Lys128Glu), gnomAD rs1275057708, REVEL 0.08, CADD 21.90
- K129R (p.Lys129Arg), rs763963244, ClinGen CA2911300, ClinVar RCV002614439, ClinVar RCV005542784, REVEL 0.06, CADD 18.90, Uncertain significance, not provided; Inborn genetic diseases
- K131T (p.Lys131Thr), NCI-TCGA Cosmic COSV6205, cosmic curated COSV62052, Variant assessed as somatic; moderate impact.
- E132* (p.Glu132Ter), Ensembl rs1553930021
- K133N (p.Lys133Asn), NCI-TCGA TCGA novel, REVEL 0.04, CADD 14.10, Variant assessed as somatic; moderate impact.
- K134E (p.Lys134Glu), ExAC rs775436707, gnomAD rs775436707, REVEL 0.07, CADD 13.50
Public CNGA1 analysis runs
- CNGA1 analysis run — CNGA1 (1,341 variants) — completed 2026-08-22