PRPH2 (Peripherin-2) variants and mutations
PRPH2 (also known as Peripherin-2) is a human protein-coding gene encoding a peripherin-2 protein. It organizes and stabilizes the rim structure of photoreceptor outer-segment discs. Pathogenic variants cause a wide range of inherited retinal diseases including retinitis pigmentosa, pattern dystrophy, and macular dystrophy. This analysis covers 910 PRPH2 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes retinitis pigmentosa, patterned macular dystrophy 1, and vitelliform macular dystrophy 3. Example PRPH2 variants include M1L, M1R, and M1T.
Variant analysis overview
- Gene: PRPH2
- Protein: Peripherin-2
- UniProt accession: P23942
- Organism: Homo sapiens
- Variants analyzed: 910
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 623 unspecified-consequence records; 117 missense variants; 18 frameshift variants; 140 synonymous variants; 8 in-frame deletions; 2 splice-region variants; 2 substitution
- Prediction scores: 782 variants have prediction scores (86% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: retinitis pigmentosa, patterned macular dystrophy 1, vitelliform macular dystrophy 3, choroidal dystrophy, central areolar 2, Butterfly-shaped pigment dystrophy, retinal disorder, Cone rod dystrophy, cone-rod dystrophy, macular degeneration, Macular dystrophy, adult-onset foveomacular vitelliform dystrophy, Retinal dystrophy.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 2 post-translational modification sites.
- Structural context: 183 variants have structural context.
- PTM context: 3 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 PRPH2 variants
Examples include M1L, M1R, M1T, M1V, A2E, A2S, A2T, A2V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs1761921867, ClinGen CA364138986, ClinVar RCV001530268, ClinVar RCV002568885, MetaLR 0.04, MetaSVM -1.17, Pathogenic, PRPH2-related disorder
- M1R (p.Met1Arg), rs121918565, ClinGen CA364138984, ClinVar RCV002250267, MetaLR 0.04, MetaSVM -1.17, Pathogenic, Pigmentary retinal dystrophy
- M1T (p.Met1Thr), rs121918565, ClinGen CA122940, ClinVar RCV000084961, ClinVar RCV002508120, MetaLR 0.04, MetaSVM -1.17, Pathogenic/Likely pathogenic, PRPH2-related disorder; Retinal dystrophy
- M1V (p.Met1Val), rs1761921867, ClinGen CA364138987, ClinVar RCV001202664, ClinVar RCV003890347, MetaLR 0.04, MetaSVM -1.17, Conflicting interpretations, Retinal dystrophy; PRPH2-related disorder
- A2E (p.Ala2Glu), ExAC rs761320905, TOPMed rs761320905, gnomAD rs761320905, REVEL 0.25, CADD 23.40, Uncertain significance, PRPH2-related disorder
- A2S (p.Ala2Ser), rs1424831291, ClinGen CA364138978, ClinVar RCV001530269, gnomAD rs1424831291, AlphaMissense 0.14, MetaLR 0.03, Likely pathogenic, not provided
- A2T (p.Ala2Thr), rs1424831291, ClinGen CA364138980, ClinVar RCV001989185, ClinVar RCV002608066, REVEL 0.19, AlphaMissense 0.14, Uncertain significance, Patterned macular dystrophy 1; Vitelliform macular dystrophy 3; Pigmentary retin
- A2V (p.Ala2Val), rs761320905, ClinGen CA3808681, NCI-TCGA Cosmic COSV1000, ClinVar RCV003592395, REVEL 0.17, CADD 16.70, Uncertain significance, PRPH2-related disorder
- K5E (p.Lys5Glu), gnomAD rs1264201049, REVEL 0.11, CADD 24.80
- V6L (p.Val6Leu), TOPMed rs1223107400, REVEL 0.03, CADD 15.90
- K7M (p.Lys7Met), Ensembl rs1761921286
- K7N (p.Lys7Asn), rs1582781191, ClinGen CA364138944, ClinVar RCV000998599, ClinVar RCV002549097, REVEL 0.22, CADD 13.30, Uncertain significance, PRPH2-related disorder; not provided
- K7T (p.Lys7Thr), NCI-TCGA Cosmic COSV5783, Variant assessed as somatic; moderate impact.
- F8S (p.Phe8Ser), Ensembl rs1761921169
- Q10* (p.Gln10Ter), rs1761921113, ClinGen CA364138925, ClinVar RCV001073237, Ensembl rs1761921113, Likely pathogenic
- Q10H (p.Gln10His), TOPMed rs1487386106, gnomAD rs1487386106, REVEL 0.07, CADD 17.10
- K11* (p.Lys11Ter), ExAC rs775176959, gnomAD rs775176959, CADD 36.00
- K11R (p.Lys11Arg), gnomAD rs1212075274, REVEL 0.15, CADD 18.50
- K12N (p.Lys12Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R13L (p.Arg13Leu), ExAC rs745427463, gnomAD rs745427463, REVEL 0.56, CADD 26.00, Likely pathogenic, in RP7
- R13Q (p.Arg13Gln), rs745427463, ClinGen CA3808676, ClinVar RCV001530270, ExAC rs745427463, REVEL 0.45, CADD 26.30, Likely pathogenic, not provided
- R13W (p.Arg13Trp), rs61754402, ClinGen CA226230, ClinVar RCV000084967, ClinVar RCV001078785, REVEL 0.50, CADD 24.30, Conflicting interpretations, PRPH2-related disorder; Retinal dystrophy; not provided
- V14F (p.Val14Phe), gnomAD rs1761920637, REVEL 0.17, CADD 23.40
- K15N (p.Lys15Asn), rs1761920330, ClinGen CA364138890, ClinVar RCV001364022, TOPMed rs1761920330, AlphaMissense 0.78, MetaLR 0.03, Uncertain significance, PRPH2-related disorder
- K15Q (p.Lys15Gln), gnomAD rs1319529235, REVEL 0.44, CADD 25.30
- K15R (p.Lys15Arg), rs555112175, ClinGen CA3808674, ClinVar RCV001163149, ClinVar RCV001163150, REVEL 0.24, CADD 21.20, Conflicting interpretations, Cone-rod dystrophy; Choroidal dystrophy, central areolar 2; PRPH2-related disord
- A17P (p.Ala17Pro), ExAC rs777717115, TOPMed rs777717115, gnomAD rs777717115, REVEL 0.49, CADD 25.70
- A17T (p.Ala17Thr), ExAC rs777717115, TOPMed rs777717115, gnomAD rs777717115, REVEL 0.38, CADD 25.30
- A17V (p.Ala17Val), TOPMed rs1761920100
- Q18H (p.Gln18His), rs752955075, NCI-TCGA Cosmic COSV5783, ExAC rs752955075, gnomAD rs752955075, REVEL 0.27, CADD 22.40, Variant assessed as somatic; moderate impact.
- Q18R (p.Gln18Arg), ExAC rs758336829, TOPMed rs758336829, gnomAD rs758336829, REVEL 0.24, CADD 23.80
- G19R (p.Gly19Arg), NCI-TCGA Cosmic COSV5783, TOPMed rs1761919919, Variant assessed as somatic; moderate impact.
- L20F (p.Leu20Phe), Ensembl rs1761919789
- L20I (p.Leu20Ile), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- W21* (p.Trp21Ter), rs2152011132, ClinGen CA364138852, ClinVar RCV001530273, Ensembl rs2152011132, CADD 36.00, Pathogenic
- M23I (p.Met23Ile), rs779326874, ClinGen CA3808669, ClinVar RCV001373528, ExAC rs779326874, REVEL 0.27, CADD 20.30, Uncertain significance, PRPH2-related disorder
- M23L (p.Met23Leu), TOPMed rs1177186834, REVEL 0.17, CADD 13.40
- N24S (p.Asn24Ser), TOPMed rs1210359538, gnomAD rs1210359538, REVEL 0.54, CADD 22.90
- W25* (p.Trp25Ter), 1000Genomes rs146686238, ESP rs146686238, ExAC rs146686238, TOPMed rs146686238, CADD 36.00, Uncertain significance
- W25C (p.Trp25Cys), rs146686238, 1000Genomes rs146686238, ESP rs146686238, ExAC rs146686238, REVEL 0.82, CADD 26.60, Uncertain significance, PRPH2-related disorder; Retinitis pigmentosa
- W25L (p.Trp25Leu), 1000Genomes rs535111150, ExAC rs535111150, gnomAD rs535111150, REVEL 0.70, CADD 24.10
- W25S (p.Trp25Ser), 1000Genomes rs535111150, ExAC rs535111150, gnomAD rs535111150, REVEL 0.83, CADD 27.10
- F26L (p.Phe26Leu), rs1267248603, NCI-TCGA Cosmic COSV5783, gnomAD rs1267248603, REVEL 0.14, CADD 8.80, Variant assessed as somatic; moderate impact.
- F26V (p.Phe26Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S27F (p.Ser27Phe), rs61755766, ClinGen CA226316, ClinVar RCV000085024, ClinVar RCV001043298, REVEL 0.56, CADD 24.20, Pathogenic/Likely pathogenic, PRPH2-related disorder; Retinal dystrophy
- V28A (p.Val28Ala), ExAC rs761246991, gnomAD rs761246991, REVEL 0.63, CADD 24.30
- V28M (p.Val28Met), rs1476970688, ClinGen CA364138807, ClinVar RCV002937975, ClinVar RCV003889183, REVEL 0.59, CADD 25.20, Uncertain significance, PRPH2-related disorder; Retinal dystrophy
- A30V (p.Ala30Val), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- G31D (p.Gly31Asp), TOPMed rs886061404, gnomAD rs886061404, REVEL 0.90, AlphaMissense 0.90, Uncertain significance
- G31V (p.Gly31Val), rs886061404, ClinGen CA10623961, ClinVar RCV000261739, ClinVar RCV000277137, AlphaMissense 0.90, MetaLR 0.81, Uncertain significance, Pigmentary retinal dystrophy; Retinitis pigmentosa; Patterned macular dystrophy
- I32N (p.Ile32Asn), TOPMed rs1761918811
- I32V (p.Ile32Val), rs61755767, ClinGen CA226333, ClinVar RCV000085036, ClinVar RCV001250380, REVEL 0.36, CADD 15.80, Conflicting interpretations, PRPH2-related disorder; Retinitis pigmentosa 7; Pigmentary retinal dystrophy
- I33T (p.Ile33Thr), rs767850825, ClinGen CA3808665, ClinVar RCV001348611, ClinVar RCV005262421, REVEL 0.22, CADD 22.40, Uncertain significance, Inborn genetic diseases; PRPH2-related disorder
- F35L (p.Phe35Leu), ExAC rs775097028, gnomAD rs775097028, REVEL 0.44, CADD 22.00
- F35Y (p.Phe35Tyr), rs2548309930, ClinGen CA364138762, ClinVar RCV004507581, Uncertain significance, Inborn genetic diseases
- S36N (p.Ser36Asn), 1000Genomes rs201018137, gnomAD rs201018137, REVEL 0.46, CADD 22.90
- S36R (p.Ser36Arg), Ensembl rs113689552
- G38* (p.Gly38Ter), rs1761918414, ClinGen CA364138745, ClinVar RCV001530290, Ensembl rs1761918414, AlphaMissense 1.00, MetaLR 0.81, Likely pathogenic
- G38R (p.Gly38Arg), Ensembl rs1761918414, Likely pathogenic
- L39P (p.Leu39Pro), rs2152011095, ClinGen CA364138738, ClinVar RCV001530291, Ensembl rs2152011095, REVEL 0.85, CADD 27.40, Uncertain significance, not provided
- L41M (p.Leu41Met), gnomAD rs1326692133, REVEL 0.52, CADD 22.90
- L41P (p.Leu41Pro), rs2152011091, ClinGen CA364138725, ClinVar RCV001530292, ClinVar RCV001882583, AlphaMissense 0.98, MetaLR 0.67, Likely pathogenic, PRPH2-related disorder
- K42N (p.Lys42Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I43M (p.Ile43Met), gnomAD rs1258288544, REVEL 0.57, CADD 14.90
- E44K (p.Glu44Lys), rs758924894, NCI-TCGA Cosmic COSV5783, ExAC rs758924894, gnomAD rs758924894, AlphaMissense 0.80, MetaLR 0.66, Variant assessed as somatic; moderate impact.
- L45F (p.Leu45Phe), rs61755770, ClinGen CA226207, ClinVar RCV000084954, ClinVar RCV000987700, REVEL 0.52, CADD 25.90, Benign/Likely benign, PRPH2-related disorder; Cone-rod dystrophy; Retinitis pigmentosa
- R46* (p.Arg46Ter), rs61755771, ClinGen CA226209, ClinVar RCV000014067, ClinVar RCV000084955, CADD 36.00, Pathogenic
- R46Q (p.Arg46Gln), rs746940785, ClinGen CA3808660, NCI-TCGA Cosmic COSV5783, ClinVar RCV002581094, REVEL 0.28, CADD 21.80, Uncertain significance, PRPH2-related disorder
- K47E (p.Lys47Glu), rs1562434309, ClinGen CA364138692, ClinVar RCV001295424, Ensembl rs1562434309, REVEL 0.65, CADD 22.90, Uncertain significance, PRPH2-related disorder
- K47N (p.Lys47Asn), rs1384815075, ClinGen CA364138687, ClinVar RCV003198404, Uncertain significance, Inborn genetic diseases
- S49G (p.Ser49Gly), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- S49N (p.Ser49Asn), ESP rs146844134, ExAC rs146844134, TOPMed rs146844134, gnomAD rs146844134, Uncertain significance
- S49R (p.Ser49Arg), ESP rs372456408, ExAC rs372456408, gnomAD rs372456408, REVEL 0.49, CADD 15.70
- S49T (p.Ser49Thr), rs146844134, ClinGen CA3808659, ClinVar RCV001342415, ESP rs146844134, REVEL 0.45, CADD 22.80, Uncertain significance, PRPH2-related disorder
- D50H (p.Asp50His), rs747987442, ClinGen CA364138671, ClinVar RCV001530293, ExAC rs747987442, AlphaMissense 0.44, MetaLR 0.02, Uncertain significance, not provided
- D50N (p.Asp50Asn), rs747987442, ClinGen CA3808657, ClinVar RCV003033746, ExAC rs747987442, REVEL 0.10, AlphaMissense 0.44, Uncertain significance, PRPH2-related disorder
- M52L (p.Met52Leu), gnomAD rs1331100917, REVEL 0.33, CADD 21.90
- M52R (p.Met52Arg), TOPMed rs1314045039, gnomAD rs1314045039, REVEL 0.89, CADD 26.60
- E56G (p.Glu56Gly), rs1351857575, ClinGen CA364138588, ClinVar RCV001158411, ClinVar RCV001158412, REVEL 0.35, CADD 24.80, Uncertain significance, Inborn genetic diseases; Patterned macular dystrophy 1; Choroidal dystrophy, cen
- S57N (p.Ser57Asn), gnomAD rs1165541913, REVEL 0.46, CADD 24.10
- S57R (p.Ser57Arg), rs1761917045, ClinGen CA364138564, ClinVar RCV001344203, Ensembl rs1761917045, REVEL 0.59, CADD 24.80, Uncertain significance, PRPH2-related disorder
- P61L (p.Pro61Leu), TOPMed rs1761916976, REVEL 0.83, CADD 28.10
- P61S (p.Pro61Ser), rs2548309867, ClinGen CA364138501, ClinVar RCV003757316, REVEL 0.72, CADD 26.00, Uncertain significance, PRPH2-related disorder
- N62D (p.Asn62Asp), Ensembl rs879352836
- N62K (p.Asn62Lys), rs755239769, NCI-TCGA Cosmic COSV1000, ExAC rs755239769, TOPMed rs755239769, REVEL 0.48, CADD 23.00, Uncertain significance, Inborn genetic diseases
- N62S (p.Asn62Ser), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- L64F (p.Leu64Phe), NCI-TCGA Cosmic COSV5783, Variant assessed as somatic; moderate impact.
- G66R (p.Gly66Arg), ExAC rs749258271, gnomAD rs749258271, REVEL 0.40, CADD 15.30
- G66G (p.Gly66Gly), gnomAD 6-42722137-C-T, CADD 7.41
- M67T (p.Met67Thr), gnomAD 6-42722135-A-G, REVEL 0.25, CADD 22.30
- G68R (p.Gly68Arg), rs61755774, ClinGen CA364138392, ClinVar RCV001530297, gnomAD rs61755774, REVEL 0.93, CADD 26.60, Likely pathogenic, not provided
- G68V (p.Gly68Val), Ensembl rs1008805780
- G68G (p.Gly68Gly), rs780175779, gnomAD 6-42722131-C-T, CADD 9.12
- V69A (p.Val69Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V69L (p.Val69Leu), rs558060514, ExAC rs558060514, TOPMed rs558060514, gnomAD rs558060514, REVEL 0.25, CADD 5.61, Uncertain significance, not provided; PRPH2-related disorder
- V69M (p.Val69Met), gnomAD 6-42722130-C-T, REVEL 0.28, CADD 13.00
- L70L (p.Leu70Leu), gnomAD 6-42722125-T-C, CADD 10.50
- S71F (p.Ser71Phe), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- S71P (p.Ser71Pro), TOPMed rs1275351080
- C72F (p.Cys72Phe), ESP rs375090109, ExAC rs375090109, TOPMed rs375090109, gnomAD rs375090109, REVEL 0.48, CADD 23.00, Uncertain significance
- C72S (p.Cys72Ser), rs375090109, ClinGen CA3808650, ClinVar RCV001295989, ClinVar RCV001776177, REVEL 0.64, CADD 22.70, Uncertain significance, PRPH2-related disorder; not provided; Inborn genetic diseases
- C72Y (p.Cys72Tyr), gnomAD 6-42722120-C-T, REVEL 0.61, CADD 23.00
- V73V (p.Val73Val), gnomAD 6-42722116-G-A, CADD 8.47
- V73A (p.Val73Ala), gnomAD 6-42722117-A-G, REVEL 0.19, CADD 20.90
- V73L (p.Val73Leu), gnomAD 6-42722118-C-G, REVEL 0.17, CADD 16.90
- F74del (p.Phe74del), rs749136402, gnomAD 6-42722112-TGAA-T, CADD 17.20
- N75S (p.Asn75Ser), TOPMed rs749097332, REVEL 0.32, CADD 23.40
- N75Y (p.Asn75Tyr), Ensembl rs1761915746
- N75K (p.Asn75Lys), gnomAD 6-42722110-G-C, REVEL 0.29, CADD 21.90
- N75N (p.Asn75Asn), gnomAD 6-42722110-G-A, CADD 5.98
- N75T (p.Asn75Thr), gnomAD 6-42722111-T-G, REVEL 0.36, CADD 25.90
- S76* (p.Ser76Ter), rs1203908646, ClinGen CA364138254, ClinVar RCV000987698, ClinVar RCV002550603, CADD 36.00, Pathogenic
- S76L (p.Ser76Leu), rs1203908646, TOPMed rs1203908646, REVEL 0.17, CADD 20.70, Pathogenic
- S76W (p.Ser76Trp), gnomAD 6-42722104-CAGCG-, CADD 32.00
- S76S (p.Ser76Ser), rs371990988, gnomAD 6-42722107-C-T, CADD 8.81
- L77Q (p.Leu77Gln), gnomAD 6-42722105-A-T, REVEL 0.71, CADD 27.40
- A78S (p.Ala78Ser), gnomAD rs1320649695, REVEL 0.41, CADD 21.80
- A78V (p.Ala78Val), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- G79G (p.Gly79Gly), rs751946505, gnomAD 6-42722098-C-T, CADD 8.13
- G79R (p.Gly79Arg), gnomAD 6-42722100-C-T, REVEL 0.95, CADD 26.50
- K80* (p.Lys80Ter), rs2548309835, ClinGen CA364138199, ClinVar RCV003592593, Pathogenic
- K80R (p.Lys80Arg), gnomAD 6-42722096-T-C, REVEL 0.61, CADD 24.40
- I81F (p.Ile81Phe), Ensembl rs1761915260
- C82* (p.Cys82Ter), rs1242862941, ClinGen CA364138153, ClinVar RCV001073624, ClinVar RCV001250293, Pathogenic
- C82F (p.Cys82Phe), rs2548309832, ClinGen CA364138161, ClinVar RCV003592826, REVEL 0.91, CADD 25.60, Uncertain significance, PRPH2-related disorder
- C82Y (p.Cys82Tyr), NCI-TCGA Cosmic COSV5783, Variant assessed as somatic; moderate impact.
- C82C (p.Cys82Cys), rs1242862941, gnomAD 6-42722089-G-A, CADD 9.38
- Y83* (p.Tyr83Ter), rs61755775, ClinGen CA364138134, ClinVar RCV002857924, Pathogenic
- Y83Y (p.Tyr83Tyr), rs61755775, gnomAD 6-42722086-G-A, CADD 0.07
- Y83F (p.Tyr83Phe), gnomAD 6-42722087-T-A, REVEL 0.43, CADD 22.30
- D84E (p.Asp84Glu), rs139936445, ClinGen CA3808645, ClinVar RCV001227963, 1000Genomes rs139936445, REVEL 0.51, CADD 0.15, Uncertain significance, PRPH2-related disorder
- D84N (p.Asp84Asn), rs368257452, ClinGen CA3808646, ClinVar RCV001776716, ClinVar RCV003757227, REVEL 0.55, CADD 24.20, Uncertain significance, not provided; PRPH2-related disorder; Inborn genetic diseases
- D84D (p.Asp84Asp), rs139936445, gnomAD 6-42722083-G-A, CADD 0.02
- D84Y (p.Asp84Tyr), gnomAD 6-42722085-C-A, REVEL 0.79, CADD 24.10
- A85T (p.Ala85Thr), rs760311433, ClinGen CA3808643, ClinVar RCV001530214, ClinVar RCV001873748, REVEL 0.08, CADD 6.24, Uncertain significance, PRPH2-related disorder
- A85A (p.Ala85Ala), gnomAD 6-42722080-G-A, CADD 2.94
- A85V (p.Ala85Val), gnomAD 6-42722081-G-A, REVEL 0.10, CADD 18.60
- L86V (p.Leu86Val), Ensembl rs1761914714
- L86P (p.Leu86Pro), gnomAD 6-42722078-A-G, REVEL 0.37, CADD 24.40
- D87H (p.Asp87His), TOPMed rs1761914669
- D87Q (p.Asp87Gln), rs1554270834, gnomAD 6-42722068-GGCTGG, CADD 25.90
- D87D (p.Asp87Asp), gnomAD 6-42722074-G-A, CADD 3.21
- D87E (p.Asp87Glu), gnomAD 6-42722074-G-T, REVEL 0.25, CADD 16.90
- P88L (p.Pro88Leu), TOPMed rs1761914575, REVEL 0.17, CADD 21.10
- P88S (p.Pro88Ser), gnomAD rs1761914612, REVEL 0.08, CADD 15.50
- P88P (p.Pro88Pro), rs1294407459, gnomAD 6-42722071-T-G, CADD 0.17
- P88T (p.Pro88Thr), gnomAD 6-42722073-G-T, REVEL 0.08, CADD 12.20
- A89D (p.Ala89Asp), NCI-TCGA Cosmic COSV5783, Variant assessed as somatic; moderate impact.
- A89P (p.Ala89Pro), ExAC rs773254206, TOPMed rs773254206, gnomAD rs773254206, REVEL 0.09, CADD 8.96, Uncertain significance
- A89T (p.Ala89Thr), rs773254206, ClinGen CA3808642, ClinVar RCV003818317, ExAC rs773254206, REVEL 0.03, CADD 5.05, Uncertain significance, PRPH2-related disorder
- A89V (p.Ala89Val), gnomAD rs1562434177, REVEL 0.03, CADD 17.10
- K90N (p.Lys90Asn), gnomAD rs530135649
- K90R (p.Lys90Arg), ExAC rs772157862, TOPMed rs772157862, gnomAD rs772157862, REVEL 0.14, CADD 22.90, Uncertain significance, PRPH2-related disorder
- K90K (p.Lys90Lys), rs530135649, gnomAD 6-42722065-C-T, CADD 4.46
- Y91* (p.Tyr91Ter), rs1761914145, ClinGen CA364138058, ClinVar RCV001199520, Ensembl rs1761914145, Pathogenic
- Y91H (p.Tyr91His), rs747893076, ClinGen CA364138062, ClinVar RCV001530217, ClinVar RCV005094726, AlphaMissense 0.48, MetaLR 0.02, Uncertain significance, PRPH2-related disorder
- Y91N (p.Tyr91Asn), rs747893076, ClinGen CA238587, ClinVar RCV000173108, ClinVar RCV001232080, REVEL 0.74, AlphaMissense 0.48, Uncertain significance, PRPH2-related disorder; Patterned dystrophy of the retinal pigment epithelium; n
- Y91Y (p.Tyr91Tyr), gnomAD 6-42722062-A-G, CADD 0.17
- A92T (p.Ala92Thr), rs1761914105, ClinGen CA364138056, ClinVar RCV003757524, NCI-TCGA TCGA novel, AlphaMissense 0.07, MetaLR 0.14, Uncertain significance, PRPH2-related disorder
- A92V (p.Ala92Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A92A (p.Ala92Ala), gnomAD 6-42722059-G-A, CADD 7.31
- R93G (p.Arg93Gly), TOPMed rs1761914004, gnomAD rs1761914004, REVEL 0.36, CADD 22.50
- R93K (p.Arg93Lys), Ensembl rs1761913965, REVEL 0.27, CADD 9.16
- W94* (p.Trp94Ter), rs2152011008, ClinGen CA364138041, ClinVar RCV001530219, ClinVar RCV004815550, CADD 37.00, Pathogenic
- W94R (p.Trp94Arg), 1000Genomes rs567678322, ExAC rs567678322, gnomAD rs567678322, REVEL 0.81, CADD 24.00
- K95N (p.Lys95Asn), TOPMed rs1761913836
- K95K (p.Lys95Lys), gnomAD 6-42722050-C-T, CADD 9.47
- K95R (p.Lys95Arg), gnomAD 6-42722051-T-C, REVEL 0.21, MetaLR 0.19
- P96L (p.Pro96Leu), TOPMed rs1167627551, REVEL 0.37, CADD 20.20
- P96S (p.Pro96Ser), rs1408863996, ClinGen CA364138015, ClinVar RCV002609777, TOPMed rs1408863996, REVEL 0.39, CADD 19.50, Uncertain significance, PRPH2-related disorder
- W97* (p.Trp97Ter), rs1761913693, ClinGen CA364137994, ClinVar RCV001067713, Ensembl rs1761913693, Pathogenic
- W97R (p.Trp97Arg), TOPMed rs1177754731, gnomAD rs1177754731, REVEL 0.38, CADD 22.40, Uncertain significance, PRPH2-related disorder
- L98M (p.Leu98Met), rs1417128552, ClinGen CA364137981, ClinVar RCV001880906, gnomAD rs1417128552, AlphaMissense 0.15, MetaLR 0.60, Uncertain significance, PRPH2-related disorder
- L98V (p.Leu98Val), gnomAD rs1417128552, REVEL 0.62, AlphaMissense 0.15, Uncertain significance
- L98L (p.Leu98Leu), rs1408236355, gnomAD 6-42722041-C-T, CADD 10.10
- P100L (p.Pro100Leu), rs768400169, ClinGen CA3808639, NCI-TCGA Cosmic COSV5783, ClinVar RCV001530220, REVEL 0.31, CADD 22.90, Uncertain significance, Retinal dystrophy; PRPH2-related disorder
- P100S (p.Pro100Ser), NCI-TCGA Cosmic COSV5783, Variant assessed as somatic; moderate impact.
- P100P (p.Pro100Pro), rs150695654, gnomAD 6-42722035-C-T, CADD 0.59
- Y101* (p.Tyr101Ter), rs61755776, ClinGen CA364137922, ClinVar RCV003044415, ClinGen CA16618287, Pathogenic
- L102R (p.Leu102Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
Public PRPH2 analysis runs
- PRPH2 analysis run — PRPH2 (910 variants) — completed 2026-08-19