C793Y (p.Cys793Tyr) variant of OCA2 (P protein)
C793Y (p.Cys793Tyr) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C793Y (p.Cys793Tyr) variant details
- p.Cys793Tyr
- rs1026811783
- ClinGen CA267839522
- ClinVar RCV001909173
- TOPMed rs1026811783
- Pathogenic/Likely pathogenic
- not provided; Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.52
- CADD 26.20
- ClinVar: Pathogenic/Likely pathogenic (not provided; Tyrosinase-positive oculocutaneous albinism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available