G359D (p.Gly359Asp) variant of OCA2 (P protein)
G359D (p.Gly359Asp) 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 OCA2-related disorder; not provided; Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G359D (p.Gly359Asp) variant details
- p.Gly359Asp
- rs200398581
- ClinGen CA7439225
- ClinVar RCV001993111
- ClinVar RCV003128278
- Pathogenic/Likely pathogenic
- OCA2-related disorder; not provided; Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.96
- CADD 26.60
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; not provided; Tyrosinase-positive oculocu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)