EYS (Protein eyes shut homolog) variants and mutations
EYS (also known as Protein eyes shut homolog) is a human protein-coding gene encoding a protein eyes shut homolog protein. A large protein needed to maintain photoreceptor structure in the retina. Biallelic variants are a cause of retinitis pigmentosa. This analysis covers 1,715 EYS variants and mutations. Of these, 63% have computational variant effect predictions. Disease context includes retinitis pigmentosa, Retinal dystrophy, and retinitis pigmentosa 25. Example EYS variants include M1?, M1L, and D3E.
Variant analysis overview
- Gene: EYS
- Protein: Protein eyes shut homolog
- UniProt accession: Q5T1H1
- Organism: Homo sapiens
- Variants analyzed: 1715
- Variant scope: all variants
- Completed: 2026-08-28
Variant and mutation evidence
- Variant composition: 1,036 unspecified-consequence records; 2 stop lost; 126 synonymous variants; 427 missense variants; 79 frameshift variants; 14 in-frame deletions; 30 stop-gained variants; 2 in-frame insertions; 1 protein altering variant; 1 substitution
- Prediction scores: 1,080 variants have prediction scores (63% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: retinitis pigmentosa, Retinal dystrophy, retinitis pigmentosa 25, autosomal recessive retinitis pigmentosa, EYS-related retinopathy, alcohol drinking, Macular dystrophy, mathematical ability, cone-rod dystrophy, Cone rod dystrophy, retinal disorder, Abnormality of the skeletal system.
Protein structure and variant hotspots
- Protein features: 32 domains; 8 post-translational modification sites.
- Structural context: 1,218 variants have structural context.
- PTM context: 1 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to EYS
Notable EYS variants
Examples include M1?, M1L, D3E, K4*, V7A, V7F, V7I, L9M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV6099, cosmic curated COSV60997, Variant assessed as somatic; high impact.
- M1L (p.Met1Leu), rs2533031081, ClinGen CA364790870, ClinVar RCV003891100, Uncertain significance, Retinal dystrophy
- D3E (p.Asp3Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- K4* (p.Lys4Ter), rs1766221897, ClinGen CA364790845, ClinVar RCV003046591, Pathogenic
- V7A (p.Val7Ala), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60981, Variant assessed as somatic; moderate impact.
- V7F (p.Val7Phe), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- V7I (p.Val7Ile), rs377622148, ClinGen CA140434994, NCI-TCGA Cosmic COSV1006, cosmic curated COSV60976, REVEL 0.16, CADD 0.01, Uncertain significance, not provided
- L9M (p.Leu9Met), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- S10R (p.Ser10Arg), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60981, REVEL 0.29, CADD 9.29, Variant assessed as somatic; moderate impact.
- L11M (p.Leu11Met), rs1475478558, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, gnomAD rs1475478558, REVEL 0.20, CADD 6.57, Likely benign
- V13G (p.Val13Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F14V (p.Phe14Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H15L (p.His15Leu), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60994, Variant assessed as somatic; moderate impact.
- S16I (p.Ser16Ile), rs755010017, ClinGen CA3878140, NCI-TCGA Cosmic COSV6099, cosmic curated COSV60998, REVEL 0.25, CADD 12.50, Uncertain significance, not specified; not provided
- S17F (p.Ser17Phe), rs1435131611, NCI-TCGA Cosmic COSV6099, cosmic curated COSV60994, TOPMed rs1435131611, Uncertain significance
- C24* (p.Cys24Ter), NCI-TCGA Cosmic COSV6098, Variant assessed as somatic; high impact.
- R25I (p.Arg25Ile), NCI-TCGA Cosmic COSV9905, Variant assessed as somatic; moderate impact.
- R26Q (p.Arg26Gln), rs528733427, ClinGen CA140434991, NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6098, REVEL 0.08, CADD 0.73, Conflicting interpretations, not provided; Retinitis pigmentosa; Retinitis pigmentosa 25
- R26W (p.Arg26Trp), rs764308269, ClinGen CA3878135, NCI-TCGA Cosmic COSV6098, cosmic curated COSV60986, REVEL 0.18, CADD 8.58, Uncertain significance, not provided
- Q27* (p.Gln27Ter), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60986, Variant assessed as somatic; high impact.
- L28F (p.Leu28Phe), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.07, CADD 4.62, Variant assessed as somatic; moderate impact.
- L28M (p.Leu28Met), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60993, Variant assessed as somatic; moderate impact.
- V29W (p.Val29Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E31N (p.Glu31Asn), NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; high impact.
- W32* (p.Trp32Ter), rs2533030462, ClinGen CA364790666, ClinVar RCV003468007, ClinVar RCV005100152, CADD 33.00, Pathogenic
- H33Q (p.His33Gln), rs1050556768, TOPMed rs1050556768, gnomAD rs1050556768, REVEL 0.26, CADD 10.20, Variant assessed as somatic; moderate impact.
- P36L (p.Pro36Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- P36T (p.Pro36Thr), rs1562221891, gnomAD rs1562221891, REVEL 0.29, CADD 16.30, Uncertain significance, Inborn genetic diseases
- S37* (p.Ser37Ter), rs2533030372, ClinGen CA364790630, ClinVar RCV003468051, Likely pathogenic
- S37L (p.Ser37Leu), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60989, REVEL 0.15, CADD 9.77, Variant assessed as somatic; moderate impact.
- S38* (p.Ser38Ter), rs1288767318, ClinGen CA364790624, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, CADD 32.00, Pathogenic
- Y39* (p.Tyr39Ter), rs2533030270, ClinGen CA364790617, ClinVar RCV003468037, Likely pathogenic
- V41I (p.Val41Ile), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.10, CADD 14.90, Variant assessed as somatic; moderate impact.
- W43C (p.Trp43Cys), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60986, Variant assessed as somatic; moderate impact.
- T46A (p.Thr46Ala), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60997, Variant assessed as somatic; moderate impact.
- E47* (p.Glu47Ter), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60984, NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; high impact.
- D52E (p.Asp52Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- D52N (p.Asp52Asn), NCI-TCGA Cosmic COSV6099, NCI-TCGA Cosmic COSV6100, cosmic curated COSV61000, Variant assessed as somatic; moderate impact.
- F53L (p.Phe53Leu), NCI-TCGA TCGA novel, NCI-TCGA Cosmic COSV6099, cosmic curated COSV60998, REVEL 0.14, CADD 9.37, Uncertain significance, Autosomal recessive retinitis pigmentosa
- F53V (p.Phe53Val), NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; moderate impact.
- Y54* (p.Tyr54Ter), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, CADD 27.80, Variant assessed as somatic; high impact.
- D56N (p.Asp56Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D56Y (p.Asp56Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L60F (p.Leu60Phe), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- G61S (p.Gly61Ser), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, NCI-TCGA Cosmic COSV6100, Variant assessed as somatic; moderate impact.
- T64S (p.Thr64Ser), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- K65E (p.Lys65Glu), rs2533029865, ClinGen CA364790442, ClinVar RCV002806416, NCI-TCGA TCGA novel, Uncertain significance, not provided
- K65N (p.Lys65Asn), NCI-TCGA Cosmic COSV6100, cosmic curated COSV61000, Variant assessed as somatic; moderate impact.
- I66K (p.Ile66Lys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, NCI-TCGA Cosmic COSV6098, Variant assessed as somatic; moderate impact.
- D67G (p.Asp67Gly), NCI-TCGA TCGA novel, REVEL 0.21, CADD 2.88, Variant assessed as somatic; high impact.
- T68N (p.Thr68Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S69L (p.Ser69Leu), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60982, Variant assessed as somatic; moderate impact.
- G70D (p.Gly70Asp), NCI-TCGA TCGA novel, REVEL 0.18, CADD 0.50, Variant assessed as somatic; moderate impact.
- Q72H (p.Gln72His), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60981, Variant assessed as somatic; moderate impact.
- A73D (p.Ala73Asp), rs1326141824, NCI-TCGA Cosmic COSV6099, cosmic curated COSV60993, TOPMed rs1326141824, REVEL 0.24, CADD 1.49, Variant assessed as somatic; moderate impact.
- P75L (p.Pro75Leu), NCI-TCGA Cosmic COSV6100, cosmic curated COSV61002, Variant assessed as somatic; moderate impact.
- P75S (p.Pro75Ser), NCI-TCGA Cosmic COSV6100, cosmic curated COSV61002, Variant assessed as somatic; moderate impact.
- Q76K (p.Gln76Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P79R (p.Pro79Arg), rs2533029634, ClinGen CA364790348, ClinVar RCV002834390, NCI-TCGA Cosmic COSV1006, Uncertain significance, not provided
- L84* (p.Leu84Ter), rs2533029550, ClinGen CA364790314, ClinVar RCV003468033, Likely pathogenic
- G85* (p.Gly85Ter), rs1582376797, ClinGen CA364790309, ClinVar RCV003460075, Likely pathogenic
- G85E (p.Gly85Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- D86N (p.Asp86Asn), rs768578089, cosmic curated COSV10647, ExAC rs768578089, REVEL 0.32, CADD 22.90, Variant assessed as somatic; moderate impact.
- I87F (p.Ile87Phe), rs780162766, NCI-TCGA Cosmic COSV6098, cosmic curated COSV60984, REVEL 0.28, CADD 9.89, Variant assessed as somatic; moderate impact.
- I87M (p.Ile87Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S91C (p.Ser91Cys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, NCI-TCGA Cosmic COSV6097, Variant assessed as somatic; moderate impact.
- S91Y (p.Ser91Tyr), NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6097, cosmic curated COSV60977, Variant assessed as somatic; moderate impact.
- E93* (p.Glu93Ter), NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; high impact.
- P94Q (p.Pro94Gln), rs111947397, ClinGen CA3878102, cosmic curated COSV60991, ClinVar RCV000398864, REVEL 0.21, CADD 19.40, Conflicting interpretations, not provided; Retinitis pigmentosa 25; Retinitis pigmentosa
- S95A (p.Ser95Ala), rs2533029384, ClinGen CA364790249, ClinVar RCV002838368, REVEL 0.28, CADD 23.20, Uncertain significance, not provided
- S95F (p.Ser95Phe), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60982, Variant assessed as somatic; moderate impact.
- L96I (p.Leu96Ile), NCI-TCGA Cosmic COSV1044, cosmic curated COSV10968, TOPMed rs2077590851, REVEL 0.25, CADD 23.50, Variant assessed as somatic; moderate impact.
- E100* (p.Glu100Ter), rs2533029288, ClinGen CA364790218, ClinVar RCV003682197, CADD 36.00, Pathogenic
- N102I (p.Asn102Ile), rs1274819145, NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6098, cosmic curated COSV60980, Variant assessed as somatic; moderate impact.
- N102S (p.Asn102Ser), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, NCI-TCGA Cosmic COSV6098, Variant assessed as somatic; moderate impact.
- L103F (p.Leu103Phe), rs1291012335, gnomAD rs1291012335, Variant assessed as somatic; moderate impact.
- L103V (p.Leu103Val), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60993, REVEL 0.26, CADD 0.22, Variant assessed as somatic; moderate impact.
- V106I (p.Val106Ile), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.18, CADD 18.10, Variant assessed as somatic; moderate impact.
- T109K (p.Thr109Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S110Y (p.Ser110Tyr), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60981, Variant assessed as somatic; moderate impact.
- F111Y (p.Phe111Tyr), NCI-TCGA TCGA novel, Ensembl rs1766199652, Variant assessed as somatic; moderate impact.
- V112A (p.Val112Ala), rs562862906, ClinGen CA3878093, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.12, CADD 18.60, Uncertain significance, not provided
- V112I (p.Val112Ile), rs112609906, ClinGen CA3878094, cosmic curated COSV60990, ClinVar RCV000337683, REVEL 0.19, CADD 3.84, Benign/Likely benign, not specified; not provided; Retinitis pigmentosa
- C114F (p.Cys114Phe), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- C114S (p.Cys114Ser), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- C114Y (p.Cys114Tyr), rs533909681, ClinGen CA3878090, NCI-TCGA Cosmic COSV1006, REVEL 0.65, CADD 20.20, Uncertain significance, not provided; Inborn genetic diseases
- V115M (p.Val115Met), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60982, Variant assessed as somatic; moderate impact.
- Q116H (p.Gln116His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q116K (p.Gln116Lys), NCI-TCGA Cosmic COSV6100, cosmic curated COSV61000, Variant assessed as somatic; moderate impact.
- N117Y (p.Asn117Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T118S (p.Thr118Ser), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- T120M (p.Thr120Met), rs12193967, ClinGen CA3878088, ClinVar RCV001279313, ClinVar RCV001871565, REVEL 0.13, CADD 1.48, Benign/Likely benign, not specified; Retinal dystrophy; Retinitis pigmentosa
- D122V (p.Asp122Val), rs2533028973, ClinGen CA364790075, ClinVar RCV002700081, REVEL 0.63, CADD 24.10, Uncertain significance, not provided
- D122Y (p.Asp122Tyr), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60998, Variant assessed as somatic; moderate impact.
- L125F (p.Leu125Phe), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60987, Variant assessed as somatic; high impact.
- F126V (p.Phe126Val), NCI-TCGA Cosmic COSV6100, cosmic curated COSV61000, Variant assessed as somatic; moderate impact.
- R129K (p.Arg129Lys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- L130I (p.Leu130Ile), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- G132E (p.Gly132Glu), NCI-TCGA TCGA novel, REVEL 0.39, CADD 18.40, Variant assessed as somatic; high impact.
- H134N (p.His134Asn), rs765304266, NCI-TCGA Cosmic COSV6100, cosmic curated COSV61001, ExAC rs765304266, REVEL 0.25, CADD 10.30, Uncertain significance
- H134Y (p.His134Tyr), rs765304266, ClinGen CA3878077, NCI-TCGA Cosmic COSV6100, ClinVar RCV003076723, REVEL 0.09, CADD 10.60, Uncertain significance, not specified; not provided
- T135I (p.Thr135Ile), NCI-TCGA TCGA novel, REVEL 0.23, CADD 13.90, Variant assessed as somatic; moderate impact.
- T135L (p.Thr135Leu), UniProt VAR 063439, Uncertain significance
- V136F (p.Val136Phe), rs543011021, UniProt VAR 063440, ExAC rs543011021, gnomAD rs543011021, REVEL 0.50, CADD 15.30
- N137K (p.Asn137Lys), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60991, Variant assessed as somatic; moderate impact.
- K139* (p.Lys139Ter), rs2533028837, ClinGen CA2739273188, ClinVar RCV003716044, Pathogenic
- W140L (p.Trp140Leu), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60985, Variant assessed as somatic; moderate impact.
- G144R (p.Gly144Arg), NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; moderate impact.
- G144W (p.Gly144Trp), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60998, Variant assessed as somatic; moderate impact.
- T145H (p.Thr145His), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- V151A (p.Val151Ala), NCI-TCGA TCGA novel, gnomAD rs1766192087, REVEL 0.29, CADD 22.50, Variant assessed as somatic; moderate impact.
- V151F (p.Val151Phe), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- S157L (p.Ser157Leu), rs1562221347, NCI-TCGA Cosmic COSV6098, cosmic curated COSV60983, NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; moderate impact.
- P158S (p.Pro158Ser), NCI-TCGA TCGA novel, Uncertain significance, Inborn genetic diseases
- G162V (p.Gly162Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L163F (p.Leu163Phe), rs144074328, ClinGen CA140434966, ClinVar RCV001161512, ClinVar RCV002559544, REVEL 0.38, CADD 23.50, Uncertain significance, not provided; Retinitis pigmentosa; Inborn genetic diseases
- R164* (p.Arg164Ter), rs794727631, ClinGen CA275249, NCI-TCGA Cosmic COSV6098, cosmic curated COSV60981, CADD 33.00, Pathogenic
- R164L (p.Arg164Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, NCI-TCGA Cosmic COSV6100, REVEL 0.53, CADD 17.30, Variant assessed as somatic; moderate impact.
- L165V (p.Leu165Val), NCI-TCGA Cosmic COSV6100, cosmic curated COSV61002, Variant assessed as somatic; moderate impact.
- N166H (p.Asn166His), NCI-TCGA Cosmic COSV6097, cosmic curated COSV60975, Ensembl rs1766188981, Variant assessed as somatic; moderate impact.
- Q172H (p.Gln172His), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- Q172L (p.Gln172Leu), NCI-TCGA Cosmic COSV6097, cosmic curated COSV60976, Variant assessed as somatic; moderate impact.
- Q175* (p.Gln175Ter), rs2533028337, ClinGen CA364789729, ClinVar RCV003069948, Pathogenic
- Q175P (p.Gln175Pro), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60998, Variant assessed as somatic; moderate impact.
- S177P (p.Ser177Pro), rs2533028317, ClinGen CA364789713, ClinVar RCV002821215, Uncertain significance, Inborn genetic diseases
- S177Y (p.Ser177Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S180* (p.Ser180Ter), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60980, Variant assessed as somatic; high impact.
- C183* (p.Cys183Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S184C (p.Ser184Cys), NCI-TCGA TCGA novel, Uncertain significance, Retinitis pigmentosa 25
- S184Y (p.Ser184Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H186Y (p.His186Tyr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.35, CADD 15.40, Variant assessed as somatic; moderate impact.
- C189R (p.Cys189Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C189Y (p.Cys189Tyr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Uncertain significance, Retinitis pigmentosa 25
- L190H (p.Leu190His), rs2533028141, ClinGen CA364789625, ClinVar RCV002654685, REVEL 0.44, CADD 22.90, Uncertain significance, not provided
- L190P (p.Leu190Pro), rs2533028141, ClinGen CA364789624, ClinVar RCV003076126, Uncertain significance, not provided
- L190V (p.Leu190Val), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- S191I (p.Ser191Ile), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60980, Variant assessed as somatic; moderate impact.
- W194L (p.Trp194Leu), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60986, Variant assessed as somatic; moderate impact.
- S195I (p.Ser195Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T197K (p.Thr197Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y198D (p.Tyr198Asp), rs886061686, ClinGen CA364789576, ClinVar RCV002824693, ClinVar RCV005616470, REVEL 0.55, CADD 23.70, Uncertain significance, not provided
- S199G (p.Ser199Gly), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60999, TOPMed rs1312139735, gnomAD rs1312139735, REVEL 0.20, CADD 10.90, Variant assessed as somatic; moderate impact.
- S199R (p.Ser199Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S199T (p.Ser199Thr), rs767293146, NCI-TCGA Cosmic COSV6099, ExAC rs767293146, Variant assessed as somatic; moderate impact.
- C202Y (p.Cys202Tyr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.63, CADD 22.20, Variant assessed as somatic; moderate impact.
- Q203* (p.Gln203Ter), rs1766182274, ClinGen CA364789540, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, CADD 33.00, Pathogenic
- P204L (p.Pro204Leu), NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6100, cosmic curated COSV61001, Variant assessed as somatic; moderate impact.
- P205L (p.Pro205Leu), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60986, NCI-TCGA Cosmic COSV6100, Variant assessed as somatic; moderate impact.
- P205Q (p.Pro205Gln), NCI-TCGA Cosmic COSV6098, NCI-TCGA Cosmic COSV6100, cosmic curated COSV61001, Variant assessed as somatic; moderate impact.
- P205T (p.Pro205Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F206V (p.Phe206Val), NCI-TCGA Cosmic COSV6097, Variant assessed as somatic; high impact.
- G208E (p.Gly208Glu), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60983, Variant assessed as somatic; moderate impact.
- G208R (p.Gly208Arg), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60983, NCI-TCGA Cosmic COSV6100, Variant assessed as somatic; moderate impact.
- K209Q (p.Lys209Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y210* (p.Tyr210Ter), rs1469481918, ClinGen CA364789488, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, CADD 35.00, Pathogenic
- Q212K (p.Gln212Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E213K (p.Glu213Lys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- L214V (p.Leu214Val), NCI-TCGA Cosmic COSV6099, cosmic curated COSV60995, Variant assessed as somatic; moderate impact.
- A216V (p.Ala216Val), rs780733593, ExAC rs780733593, TOPMed rs780733593, gnomAD rs780733593, REVEL 0.19, CADD 8.60, Variant assessed as somatic; moderate impact.
- C217F (p.Cys217Phe), rs1222379109, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, TOPMed rs1222379109, REVEL 0.51, CADD 17.60, Variant assessed as somatic; moderate impact.
- S218Y (p.Ser218Tyr), NCI-TCGA Cosmic COSV1044, gnomAD rs1350448962, Variant assessed as somatic; moderate impact.
- K220N (p.Lys220Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K223T (p.Lys223Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N224H (p.Asn224His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C228F (p.Cys228Phe), rs999213534, ClinGen CA364789369, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Uncertain significance, not provided
- R232I (p.Arg232Ile), rs139634679, ClinGen CA364789344, ClinVar RCV003044235, NCI-TCGA Cosmic COSV6099, Uncertain significance, not provided
- R232K (p.Arg232Lys), rs139634679, ClinGen CA364789345, NCI-TCGA Cosmic COSV6099, ClinVar RCV002021569, Uncertain significance, not provided
- E233* (p.Glu233Ter), rs866997713, ClinGen CA364789340, NCI-TCGA Cosmic COSV6098, ClinVar RCV001952790, Pathogenic
- N234K (p.Asn234Lys), NCI-TCGA Cosmic COSV6099, Variant assessed as somatic; moderate impact.
- N234T (p.Asn234Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W235* (p.Trp235Ter), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10742, Variant assessed as somatic; high impact.
- W235L (p.Trp235Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- A239G (p.Ala239Gly), rs2533027247, ClinGen CA2580075691, ClinVar RCV002839098, Uncertain significance, not provided
- A239S (p.Ala239Ser), NCI-TCGA Cosmic COSV6098, REVEL 0.14, CADD 3.47, Variant assessed as somatic; moderate impact.
- E241K (p.Glu241Lys), NCI-TCGA Cosmic COSV6098, cosmic curated COSV60986, Variant assessed as somatic; moderate impact.
- C244Y (p.Cys244Tyr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Ensembl rs1766174358, REVEL 0.59, CADD 19.50, Uncertain significance
- P246L (p.Pro246Leu), rs2533027149, ClinGen CA364789240, ClinVar RCV003070518, REVEL 0.23, CADD 9.00, Uncertain significance, not provided
- P247S (p.Pro247Ser), NCI-TCGA TCGA novel, Ensembl rs1766173944, Variant assessed as somatic; moderate impact.
- G250* (p.Gly250Ter), rs2533027083, ClinGen CA364789222, ClinVar RCV003016840, NCI-TCGA TCGA novel, CADD 48.00, Pathogenic
- K251N (p.Lys251Asn), rs758660747, NCI-TCGA Cosmic COSV6097, NCI-TCGA Cosmic COSV6098, NCI-TCGA Cosmic COSV6100, REVEL 0.27, CADD 13.70, Variant assessed as somatic; moderate impact.
Public EYS analysis runs
- EYS analysis run — EYS (1,715 variants) — completed 2026-08-28