Oculocutaneous albinism: genes and variants
Explore variant evidence for Oculocutaneous albinism across 1 analyzed protein (OCA2). Linked ClinVar records include 17 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 11 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-22. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Oculocutaneous albinism
OCA2: P protein
17 ClinVar pathogenic / likely pathogenic and 11 uncertain variants in OCA2 have source records linked to Oculocutaneous albinism. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): WDR45 and PDE6B.
ClinVar pathogenic and likely pathogenic variants linked to Oculocutaneous albinism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OCA2 N476S | 476 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 G485V | 485 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 F505S | 505 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 G775R | 775 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 T404M | 404 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 N489D | 489 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 P743L | 743 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 G780D | 780 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 I739T | 739 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 S360F | 360 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 W679C | 679 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 A831P | 831 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 E96A | 96 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 T387M | 387 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 S788L | 788 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 A787E | 787 | Extracellular | Pathogenic / likely pathogenic |
| OCA2 R352S | 352 | Cytoplasmic | Pathogenic / likely pathogenic |
Which prediction tools work for Oculocutaneous albinism
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- MetaLR: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaSVM: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- VARITY: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- EVE: 99 out of 100
- REVEL: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- ESM1b (LLR): 96 out of 100
- AlphaMissense: 94 out of 100
- CADD: 94 out of 100
- SIFT: 93 out of 100
- MutPred2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaGenome (regulatory): 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 84 out of 100
- Pangolin: 40 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SpliceAI: 39 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaGenome (splicing): 33 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Tyrosinase-positive oculocutaneous albinism also has ClinVar records linked to OCA2 variants; they fall mostly in different places as the Oculocutaneous albinism variants (41 pathogenic / likely pathogenic).
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES also has ClinVar records linked to OCA2 variants; they fall partly in the same places as the Oculocutaneous albinism variants (28 pathogenic / likely pathogenic).
Diseases related to Oculocutaneous albinism
- Tyrosinase-positive oculocutaneous albinism, also linked to OCA2
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, also linked to OCA2
- Basal cell carcinoma, also linked to OCA2
- Albinism or congenital nystagmus, also linked to OCA2
- Melanoma, also linked to OCA2
- Cataract, also linked to OCA2
Frequently asked questions
Which genes have records linked to Oculocutaneous albinism?
This view contains 1 analyzed proteins: OCA2. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 17 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 11 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 97 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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