Y827H (p.Tyr827His) variant of OCA2 (P protein)
Y827H (p.Tyr827His) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y827H (p.Tyr827His) variant details
- p.Tyr827His
- rs1255943449
- UniProt VAR 043702
- TOPMed rs1255943449
- gnomAD rs1255943449
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.89
- MetaSVM 0.97
- CADD 24.50
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGME)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. (PMID 17385796)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)