OCA2 (P protein) variants and mutations
OCA2 (also known as P protein) is a human protein-coding gene encoding a p protein. Its annotated function is contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. It is annotated at the melanosome membrane. This analysis covers 1,293 OCA2 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes oculocutaneous albinism type 2, oculocutaneous albinism, and Abnormal skin pigmentation. Example OCA2 variants include H2N, H2Y, and G5T.
Variant analysis overview
- Gene: OCA2
- Protein: P protein
- UniProt accession: Q04671
- Organism: Homo sapiens
- Variants analyzed: 1293
- Variant scope: all variants
- Completed: 2026-10-16
Variant and mutation evidence
- Variant composition: 1,280 unspecified-consequence records; 68 synonymous variants; 53 missense variants; 3 in-frame deletions; 13 frameshift variants; 2 splice-region variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 1,226 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: oculocutaneous albinism type 2, oculocutaneous albinism, Abnormal skin pigmentation, skin cancer, skin neoplasm, cutaneous melanoma, refractive error, hair color, basal cell carcinoma, melanoma, cataract, skin disorder.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 5 post-translational modification sites.
- Structural context: 354 variants have structural context.
- PTM context: 9 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, ClinGen, MaveDB, LitVar.
Diseases linked to OCA2
- Tyrosinase-positive oculocutaneous albinism genes and variants
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES genes and variants
- Oculocutaneous albinism genes and variants
- Basal cell carcinoma genes and variants
- Albinism or congenital nystagmus genes and variants
- Melanoma genes and variants
- Cataract genes and variants
Notable OCA2 variants
Examples include H2N, H2Y, G5T, G5C, R6T, G8S, R10Q, R10W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- H2N (p.His2Asn), ExAC rs781021505, gnomAD rs781021505, REVEL 0.23, ESM-1b 0.00
- H2Y (p.His2Tyr), ExAC rs781021505, gnomAD rs781021505, REVEL 0.19, ESM-1b 0.00
- G5T (p.Gly5Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G5C (p.Gly5Cys), gnomAD rs1429007465, REVEL 0.34, ESM-1b 0.00
- R6T (p.Arg6Thr), ExAC rs757294992, TOPMed rs757294992, gnomAD rs757294992, REVEL 0.12, ESM-1b 0.00
- G8S (p.Gly8Ser), 1000Genomes rs574772268, ExAC rs574772268, TOPMed rs574772268, gnomAD rs574772268, REVEL 0.20, ESM-1b 0.00
- R10Q (p.Arg10Gln), rs199752361, ClinGen CA7439618, cosmic curated COSV62359, ClinVar RCV001323063, REVEL 0.14, ESM-1b 0.00, Conflicting interpretations, not provided
- R10W (p.Arg10Trp), rs554862186, ClinGen CA7439619, ClinVar RCV003041217, UniProt VAR 020622, REVEL 0.57, ESM-1b 0.00, Likely benign, not provided
- P12A (p.Pro12Ala), ExAC rs759852184, gnomAD rs759852184, REVEL 0.18, ESM-1b 0.00, Uncertain significance
- P12L (p.Pro12Leu), TOPMed rs1029264707, gnomAD rs1029264707, REVEL 0.21, ESM-1b 0.00
- P12S (p.Pro12Ser), ExAC rs759852184, gnomAD rs759852184, REVEL 0.26, ESM-1b 0.00, Uncertain significance
- P12T (p.Pro12Thr), rs759852184, ClinGen CA391366876, ClinVar RCV002632497, ExAC rs759852184, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- G13R (p.Gly13Arg), 1000Genomes rs201554429, ESP rs201554429, ExAC rs201554429, TOPMed rs201554429, REVEL 0.27, ESM-1b 0.00, Benign
- G13S (p.Gly13Ser), rs201554429, ClinGen CA7439614, cosmic curated COSV62355, ClinVar RCV000302507, REVEL 0.25, ESM-1b 0.00, Benign/Likely benign, not provided; not specified
- A14T (p.Ala14Thr), rs368928996, ClinGen CA7439612, cosmic curated COSV62353, ClinVar RCV002175641, REVEL 0.33, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- A14V (p.Ala14Val), rs763734477, ClinGen CA7439611, cosmic curated COSV10066, ClinVar RCV001905699, REVEL 0.36, ESM-1b 0.00, Conflicting interpretations, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- P15L (p.Pro15Leu), rs201291702, ClinGen CA7439608, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, REVEL 0.22, ESM-1b 0.00, Likely benign, not provided
- P15Q (p.Pro15Gln), rs201291702, ClinGen CA391366861, ClinVar RCV002038255, 1000Genomes rs201291702, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- P15S (p.Pro15Ser), ExAC rs775303364, TOPMed rs775303364, gnomAD rs775303364, REVEL 0.15, ESM-1b 0.00
- A16T (p.Ala16Thr), rs2044640419, ClinGen CA391366859, ClinVar RCV001093227, Ensembl rs2044640419, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not provided
- A16V (p.Ala16Val), rs776573914, NCI-TCGA Cosmic COSV6234, cosmic curated COSV62349, ExAC rs776573914, REVEL 0.28, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- V17E (p.Val17Glu), rs1237182917, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, TOPMed rs1237182917, REVEL 0.30, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E18G (p.Glu18Gly), ExAC rs747007633, TOPMed rs747007633, gnomAD rs747007633, REVEL 0.43, ESM-1b 0.00
- L20M (p.Leu20Met), ExAC rs748332005, TOPMed rs748332005, gnomAD rs748332005, REVEL 0.28, ESM-1b 0.30, Likely benign
- L20V (p.Leu20Val), ExAC rs748332005, TOPMed rs748332005, gnomAD rs748332005, REVEL 0.18, ESM-1b 0.00, Likely benign
- Q21H (p.Gln21His), gnomAD rs61742223, REVEL 0.25, ESM-1b 0.00
- T22M (p.Thr22Met), rs779114740, ClinGen CA7439601, cosmic curated COSV10649, ClinVar RCV002003935, REVEL 0.30, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- T22C (p.Thr22Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V24M (p.Val24Met), rs766829294, ClinGen CA7439598, ClinVar RCV002019161, ExAC rs766829294, REVEL 0.30, ESM-1b 0.00, Uncertain significance, not provided
- P25L (p.Pro25Leu), ExAC rs756543761, gnomAD rs756543761, REVEL 0.26, ESM-1b 0.00
- P25S (p.Pro25Ser), rs1426141034, gnomAD rs1426141034, REVEL 0.26, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- S26G (p.Ser26Gly), gnomAD rs2044638433, REVEL 0.34, ESM-1b 0.00
- S26T (p.Ser26Thr), Ensembl rs2044638335, REVEL 0.27, ESM-1b 0.00
- G27E (p.Gly27Glu), ExAC rs762581976, gnomAD rs762581976, REVEL 0.31, ESM-1b 0.00
- G27R (p.Gly27Arg), rs61738394, UniProt VAR 006117, 1000Genomes rs61738394, ESP rs61738394, REVEL 0.34, ESM-1b 0.00, Conflicting interpretations, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- L28V (p.Leu28Val), Ensembl rs2141898283, REVEL 0.19, ESM-1b 0.00
- A29D (p.Ala29Asp), ExAC rs776260039, gnomAD rs776260039, REVEL 0.27, ESM-1b 0.00
- A29T (p.Ala29Thr), rs759291231, ClinGen CA7439589, ClinVar RCV000264722, ClinVar RCV002520940, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not provided; Tyrosinase-positive oculocutaneous albinism
- E30A (p.Glu30Ala), ExAC rs746874901, gnomAD rs746874901, REVEL 0.24, ESM-1b 0.00
- E30K (p.Glu30Lys), cosmic curated COSV10886, ExAC rs770810288, TOPMed rs770810288, gnomAD rs770810288, REVEL 0.22, ESM-1b 0.00
- E30Q (p.Glu30Gln), ExAC rs770810288, TOPMed rs770810288, gnomAD rs770810288, REVEL 0.22, ESM-1b 0.00
- L31F (p.Leu31Phe), ExAC rs772076517, gnomAD rs772076517, REVEL 0.24, ESM-1b 0.00
- L31V (p.Leu31Val), ExAC rs772076517, gnomAD rs772076517, REVEL 0.28, ESM-1b 0.00
- V32A (p.Val32Ala), Ensembl rs2141898072, REVEL 0.29, ESM-1b 0.00
- V32L (p.Val32Leu), rs1321894065, ClinGen CA391366771, ClinVar RCV001948994, TOPMed rs1321894065, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not provided
- A33S (p.Ala33Ser), ExAC rs748244078, gnomAD rs748244078, REVEL 0.24, ESM-1b 0.00
- A33V (p.Ala33Val), 1000Genomes rs548427771, REVEL 0.21, ESM-1b 0.00
- G34D (p.Gly34Asp), Ensembl rs867457274, REVEL 0.11, ESM-1b 0.00
- G34S (p.Gly34Ser), rs367553582, ClinGen CA7439581, cosmic curated COSV10066, ClinVar RCV001911234, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- K35E (p.Lys35Glu), ExAC rs749561420, gnomAD rs749561420, REVEL 0.22, ESM-1b 0.00
- R36C (p.Arg36Cys), rs148066812, ClinGen CA7439579, cosmic curated COSV62341, ClinVar RCV001119793, REVEL 0.27, ESM-1b 0.00, Conflicting interpretations, not provided; Tyrosinase-positive oculocutaneous albinism
- R36H (p.Arg36His), rs143429491, ClinGen CA7439577, cosmic curated COSV62359, ClinVar RCV002189060, REVEL 0.24, ESM-1b 0.00, Likely benign, not provided
- R36L (p.Arg36Leu), rs143429491, ClinGen CA7439578, ClinVar RCV002010726, ESP rs143429491, REVEL 0.25, ESM-1b 0.00, Uncertain significance, not provided
- R36P (p.Arg36Pro), ESP rs143429491, ExAC rs143429491, TOPMed rs143429491, gnomAD rs143429491, REVEL 0.32, ESM-1b 0.00, Likely benign
- R37K (p.Arg37Lys), TOPMed rs1175658810, gnomAD rs1175658810, REVEL 0.23, ESM-1b 0.00
- R37S (p.Arg37Ser), ExAC rs41309258, gnomAD rs41309258, REVEL 0.19, ESM-1b 0.00, Likely benign
- L38F (p.Leu38Phe), TOPMed rs1426918298, gnomAD rs1426918298, REVEL 0.28, ESM-1b 0.00
- P39A (p.Pro39Ala), gnomAD rs2044635287, REVEL 0.21, ESM-1b 0.00
- P39R (p.Pro39Arg), TOPMed rs2044635177, REVEL 0.35, ESM-1b 0.00
- R40Q (p.Arg40Gln), rs1212574604, NCI-TCGA Cosmic COSV6234, cosmic curated COSV62349, TOPMed rs1212574604, REVEL 0.27, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R40W (p.Arg40Trp), rs757923752, NCI-TCGA Cosmic COSV6234, cosmic curated COSV62345, ExAC rs757923752, REVEL 0.31, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G41C (p.Gly41Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G41E (p.Gly41Glu), cosmic curated COSV62358, gnomAD rs2044634577, REVEL 0.13, ESM-1b 0.00
- A42G (p.Ala42Gly), gnomAD rs867371205, REVEL 0.28, ESM-1b 0.00
- A42V (p.Ala42Val), gnomAD rs867371205, REVEL 0.28, ESM-1b 0.00
- G43S (p.Gly43Ser), cosmic curated COSV62349, 1000Genomes rs545820701, ExAC rs545820701, TOPMed rs545820701, REVEL 0.25, ESM-1b 0.00
- G44V (p.Gly44Val), TOPMed rs1198832011, REVEL 0.21, ESM-1b 0.00
- A45V (p.Ala45Val), TOPMed rs2044633583, gnomAD rs2044633583, REVEL 0.12, ESM-1b 0.00
- D46E (p.Asp46Glu), gnomAD rs1459745609, REVEL 0.14, ESM-1b 0.00
- D46G (p.Asp46Gly), ExAC rs766051204, gnomAD rs766051204, REVEL 0.14, ESM-1b 0.00
- D46V (p.Asp46Val), ExAC rs766051204, gnomAD rs766051204, REVEL 0.34, ESM-1b 0.00
- P47A (p.Pro47Ala), gnomAD rs2044633191, REVEL 0.17, ESM-1b 0.00
- S48L (p.Ser48Leu), cosmic curated COSV62348, 1000Genomes rs576846193, ExAC rs576846193, TOPMed rs576846193, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Tyrosinase-positive oculocutaneous albinism
- S50C (p.Ser50Cys), rs549983090, gnomAD rs549983090, REVEL 0.26, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- S50F (p.Ser50Phe), rs549983090, cosmic curated COSV11526, gnomAD rs549983090, REVEL 0.21, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- C51G (p.Cys51Gly), TOPMed rs1423303674, REVEL 0.22, ESM-1b 0.00
- P52H (p.Pro52His), 1000Genomes rs200885801, ExAC rs200885801, TOPMed rs200885801, gnomAD rs200885801, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- P52L (p.Pro52Leu), 1000Genomes rs200885801, ExAC rs200885801, TOPMed rs200885801, gnomAD rs200885801, REVEL 0.16, ESM-1b 0.00, Uncertain significance
- P52R (p.Pro52Arg), rs200885801, ClinGen CA7439566, ClinVar RCV002034936, 1000Genomes rs200885801, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- R53G (p.Arg53Gly), rs761810483, ClinGen CA7439565, ClinVar RCV002653233, ExAC rs761810483, REVEL 0.39, ESM-1b 0.00, Uncertain significance, not provided
- R53K (p.Arg53Lys), rs1034863880, ClinGen CA7439563, ClinVar RCV002010908, ClinVar RCV005455496, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- R53S (p.Arg53Ser), TOPMed rs1379944735, gnomAD rs1379944735, REVEL 0.32, ESM-1b 0.00
- R53T (p.Arg53Thr), TOPMed rs1034863880, gnomAD rs1034863880, REVEL 0.29, ESM-1b 0.00, Uncertain significance
- R53W (p.Arg53Trp), rs761810483, ClinGen CA391366656, ClinVar RCV002624107, ExAC rs761810483, REVEL 0.25, ESM-1b 0.00, Uncertain significance, not provided
- G54E (p.Gly54Glu), rs965907142, gnomAD rs965907142, REVEL 0.33, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G54R (p.Gly54Arg), ExAC rs774380004, gnomAD rs774380004, REVEL 0.32, ESM-1b 0.00
- G54V (p.Gly54Val), gnomAD rs965907142, REVEL 0.33, ESM-1b 0.00
- A55D (p.Ala55Asp), Ensembl rs1566878242, REVEL 0.49, ESM-1b 0.00
- A55S (p.Ala55Ser), ExAC rs749418896, TOPMed rs749418896, gnomAD rs749418896, REVEL 0.15, ESM-1b 0.00
- A55T (p.Ala55Thr), ExAC rs749418896, TOPMed rs749418896, gnomAD rs749418896, REVEL 0.17, ESM-1b 0.00
- A55V (p.Ala55Val), Ensembl rs1566878242, REVEL 0.16, ESM-1b 0.00
- A56G (p.Ala56Gly), TOPMed rs867941204, REVEL 0.21, ESM-1b 0.00
- A56S (p.Ala56Ser), TOPMed rs1457587922, gnomAD rs1457587922, REVEL 0.18, ESM-1b 0.00
- A56T (p.Ala56Thr), TOPMed rs1457587922, gnomAD rs1457587922, REVEL 0.28, ESM-1b 0.00
- A56V (p.Ala56Val), TOPMed rs867941204, REVEL 0.28, ESM-1b 0.00
- G57A (p.Gly57Ala), ExAC rs746247850, TOPMed rs746247850, gnomAD rs746247850, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Tyrosinase-positive oculocutaneous albinism
- G57E (p.Gly57Glu), ExAC rs746247850, TOPMed rs746247850, gnomAD rs746247850, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- G57R (p.Gly57Arg), rs372901106, ClinGen CA7439559, NCI-TCGA Cosmic COSV6233, cosmic curated COSV62356, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- Q58* (p.Gln58Ter), rs781727577, ClinGen CA7439556, ClinVar RCV003041216, ClinVar RCV003395573, CADD 28.20, Pathogenic
- Q58K (p.Gln58Lys), ExAC rs781727577, TOPMed rs781727577, gnomAD rs781727577, REVEL 0.17, ESM-1b 0.00, Pathogenic
- Q58R (p.Gln58Arg), gnomAD rs1182516404, REVEL 0.10, ESM-1b 0.00
- S59G (p.Ser59Gly), TOPMed rs2044629602, gnomAD rs2044629602, REVEL 0.14, ESM-1b 0.00
- S60P (p.Ser60Pro), rs1482513844, ClinGen CA391366618, ClinVar RCV002039152, gnomAD rs1482513844, REVEL 0.31, ESM-1b 0.00, Uncertain significance, not provided
- W61* (p.Trp61Ter), ExAC rs752161782, TOPMed rs752161782, gnomAD rs752161782, CADD 33.00
- A62V (p.Ala62Val), gnomAD rs1209695913, REVEL 0.30, ESM-1b 0.00
- P63A (p.Pro63Ala), ExAC rs754549783, TOPMed rs754549783, gnomAD rs754549783, REVEL 0.16, ESM-1b 0.00
- P63L (p.Pro63Leu), Ensembl rs2044628744, REVEL 0.17, ESM-1b 0.00
- P63S (p.Pro63Ser), ExAC rs754549783, TOPMed rs754549783, gnomAD rs754549783, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P63T (p.Pro63Thr), ExAC rs754549783, TOPMed rs754549783, gnomAD rs754549783, REVEL 0.18, ESM-1b 0.00
- A64E (p.Ala64Glu), Ensembl rs200249320, REVEL 0.30, ESM-1b 0.00
- A64P (p.Ala64Pro), ExAC rs753368228, TOPMed rs753368228, gnomAD rs753368228, REVEL 0.14, ESM-1b 0.00
- A64T (p.Ala64Thr), ExAC rs753368228, TOPMed rs753368228, gnomAD rs753368228, REVEL 0.20, ESM-1b 0.00
- A64V (p.Ala64Val), Ensembl rs200249320, REVEL 0.26, ESM-1b 0.00
- G65D (p.Gly65Asp), TOPMed rs2044628394, REVEL 0.29, ESM-1b 0.00
- Q66R (p.Gln66Arg), rs1322917049, ClinGen CA391366581, ClinVar RCV002706703, ClinVar RCV002715729, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- E67K (p.Glu67Lys), Ensembl rs2044628178, REVEL 0.12, ESM-1b 0.00
- A69P (p.Ala69Pro), Ensembl rs2141896024, REVEL 0.28, ESM-1b 0.00, Uncertain significance
- A69T (p.Ala69Thr), rs2141896024, ClinGen CA391366561, ClinVar RCV002659162, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- T73G (p.Thr73Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T73A (p.Thr73Ala), rs2141895947, ClinGen CA391366534, ClinVar RCV002023456, Ensembl rs2141895947, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not provided
- G75E (p.Gly75Glu), rs2141895899, ClinGen CA391366518, NCI-TCGA Cosmic COSV6233, cosmic curated COSV62339, REVEL 0.27, ESM-1b 0.00, Uncertain significance, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- G75T (p.Gly75Thr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, Variant assessed as somatic; moderate impact.
- R76G (p.Arg76Gly), ESP rs147785669, ExAC rs147785669, TOPMed rs147785669, gnomAD rs147785669, REVEL 0.52, ESM-1b 0.00, Uncertain significance
- R76K (p.Arg76Lys), rs1367553457, ClinGen CA391366514, cosmic curated COSV62359, ClinVar RCV002861434, REVEL 0.40, ESM-1b 0.00, Uncertain significance, not provided
- R76T (p.Arg76Thr), gnomAD rs1367553457, REVEL 0.41, ESM-1b 0.00, Uncertain significance
- R76W (p.Arg76Trp), rs147785669, ClinGen CA7439549, ClinVar RCV003073467, ClinVar RCV004744578, REVEL 0.54, ESM-1b 0.00, Uncertain significance, not provided
- H78L (p.His78Leu), gnomAD rs2042924587, REVEL 0.24, ESM-1b 0.00
- H78Y (p.His78Tyr), rs531777637, ClinGen CA7439534, ClinVar RCV000901113, ClinVar RCV003940863, REVEL 0.21, ESM-1b 0.00, Conflicting interpretations, not provided; not specified; Inborn genetic diseases
- P82A (p.Pro82Ala), TOPMed rs1406242149, REVEL 0.21, ESM-1b 0.00
- P82H (p.Pro82His), Ensembl rs1001541163, REVEL 0.33, ESM-1b 0.00, Uncertain significance
- P82R (p.Pro82Arg), rs1001541163, ClinGen CA391363193, ClinVar RCV003032385, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- Q83* (p.Gln83Ter), cosmic curated COSV10741, Ensembl rs1172859872
- S85F (p.Ser85Phe), TOPMed rs2042923919, REVEL 0.24, ESM-1b 0.00
- S86R (p.Ser86Arg), rs772243109, UniProt VAR 006118, Ensembl rs772243109, REVEL 0.52, ESM-1b 0.00, Pathogenic, in OCA2
- S86T (p.Ser86Thr), rs1024467465, ClinGen CA267888812, ClinVar RCV001924577, ClinVar RCV005692386, REVEL 0.32, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- S87P (p.Ser87Pro), TOPMed rs2042923523, REVEL 0.21, ESM-1b 0.00
- R88K (p.Arg88Lys), TOPMed rs2042923427, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R88S (p.Arg88Ser), gnomAD rs1404087528, REVEL 0.16, ESM-1b 0.00
- S89C (p.Ser89Cys), cosmic curated COSV10066, TOPMed rs2042923212, gnomAD rs2042923212, REVEL 0.18, ESM-1b 0.00
- K90T (p.Lys90Thr), gnomAD rs1168047336, REVEL 0.18, ESM-1b 0.00
- D91E (p.Asp91Glu), ExAC rs755736455, gnomAD rs755736455, REVEL 0.21, ESM-1b 0.00
- D91F (p.Asp91Phe), rs2141380377, ClinGen CA2573150578, ClinVar RCV002024428, Ensembl rs2141380377, ESM-1b 0.00, AlphaMissense 0.22, Uncertain significance, not provided
- D91V (p.Asp91Val), cosmic curated COSV62360, ExAC rs542571783, TOPMed rs542571783, gnomAD rs542571783, REVEL 0.26, ESM-1b 0.00
- D91Y (p.Asp91Tyr), cosmic curated COSV10968, ExAC rs560935571, TOPMed rs560935571, gnomAD rs560935571, REVEL 0.30, ESM-1b 0.00
- S92Y (p.Ser92Tyr), gnomAD rs2042922582, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- C93* (p.Cys93Ter), 1000Genomes rs2141380194, CADD 34.00, Likely benign
- C93S (p.Cys93Ser), ExAC rs750120991, gnomAD rs750120991, REVEL 0.15, ESM-1b 0.00
- C93Y (p.Cys93Tyr), ExAC rs750120991, gnomAD rs750120991, REVEL 0.17, ESM-1b 0.00
- T95G (p.Thr95Gly), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, Variant assessed as somatic; moderate impact.
- E96A (p.Glu96Ala), rs748287294, ClinGen CA7439528, ClinVar RCV003058454, ClinVar RCV003331419, REVEL 0.71, ESM-1b 0.00, Pathogenic/Likely pathogenic, OCA2-related disorder; Oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BL
- E96K (p.Glu96Lys), rs372184971, ClinGen CA267888793, ClinVar RCV001896649, ClinVar RCV006458761, REVEL 0.59, ESM-1b 0.36, Conflicting interpretations, not specified; OCA2-related disorder; not provided
- T98A (p.Thr98Ala), rs1183314534, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, gnomAD rs1183314534, REVEL 0.41, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P99A (p.Pro99Ala), ExAC rs757072925, gnomAD rs757072925, REVEL 0.56, ESM-1b 0.00
- P99T (p.Pro99Thr), ExAC rs757072925, gnomAD rs757072925, REVEL 0.58, ESM-1b 0.00
- L100F (p.Leu100Phe), rs2548508257, ClinGen CA391362969, ClinVar RCV003574510, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance, not provided
- L101P (p.Leu101Pro), ExAC rs764104457, gnomAD rs764104457, REVEL 0.68, ESM-1b 0.56
- S104F (p.Ser104Phe), cosmic curated COSV10525, gnomAD rs1235091618, REVEL 0.15, ESM-1b 0.00
- Q106* (p.Gln106Ter), rs2042921188, ClinVar RCV004574415, ClinVar RCV005003768, ClinVar RCV005254912, CADD 36.00, Likely pathogenic
- Q106R (p.Gln106Arg), gnomAD rs1282448249, REVEL 0.16, ESM-1b 0.00
- E107* (p.Glu107Ter), Ensembl rs1014829875
- E107D (p.Glu107Asp), TOPMed rs1225371196, gnomAD rs1225371196, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- K108N (p.Lys108Asn), gnomAD rs1403009794, REVEL 0.15, ESM-1b 0.00
- G109A (p.Gly109Ala), rs1352327430, ClinGen CA391362866, ClinVar RCV002613125, TOPMed rs1352327430, REVEL 0.32, ESM-1b 0.00, Uncertain significance, not provided
- G109R (p.Gly109Arg), TOPMed rs904727427, REVEL 0.20, ESM-1b 0.00
- G109T (p.Gly109Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G109C (p.Gly109Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S110* (p.Ser110Ter), Ensembl rs1236221268
- R111Q (p.Arg111Gln), cosmic curated COSV62348, gnomAD rs2042809169, REVEL 0.21, ESM-1b 0.00
- R111W (p.Arg111Trp), rs1280092718, NCI-TCGA Cosmic COSV6234, cosmic curated COSV62349, gnomAD rs1280092718, REVEL 0.32, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- C112A (p.Cys112Ala), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, Variant assessed as somatic; moderate impact.
- C112F (p.Cys112Phe), rs562649990, UniProt VAR 006119, ExAC rs562649990, TOPMed rs562649990, REVEL 0.51, ESM-1b 0.00, Pathogenic, in OCA2
- C112T (p.Cys112Thr), NCI-TCGA Cosmic COSV6235, cosmic curated COSV62356, Variant assessed as somatic; moderate impact.
- I113L (p.Ile113Leu), 1000Genomes rs529695988, TOPMed rs529695988, gnomAD rs529695988, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- I113V (p.Ile113Val), 1000Genomes rs529695988, TOPMed rs529695988, gnomAD rs529695988, REVEL 0.11, ESM-1b 0.00, Uncertain significance
- V115I (p.Val115Ile), gnomAD rs1314312278, REVEL 0.09, ESM-1b 0.00
- H117Y (p.His117Tyr), Ensembl rs2042808588, REVEL 0.26, ESM-1b 0.00
- P118T (p.Pro118Thr), rs2548495909, ClinGen CA391362242, ClinVar RCV002962914, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not provided
- E119A (p.Glu119Ala), TOPMed rs2042808316, REVEL 0.27, ESM-1b 0.00
- T122I (p.Thr122Ile), rs34385677, ClinGen CA7439507, ClinVar RCV001520408, ClinVar RCV004037952, REVEL 0.12, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; not provided; not specified
- A123D (p.Ala123Asp), ESP rs370230176, ExAC rs370230176, TOPMed rs370230176, gnomAD rs370230176, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
Public OCA2 analysis runs
- OCA2 analysis run — OCA2 (1,293 variants) — completed 2026-10-16