P487H (p.Pro487His) variant of OCA2 (P protein)
P487H (p.Pro487His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P487H (p.Pro487His) variant details
- p.Pro487His
- rs1595760903
- ClinGen CA391359364
- ClinVar RCV000851378
- Ensembl rs1595760903
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)