G775D (p.Gly775Asp) variant of OCA2 (P protein)
G775D (p.Gly775Asp) 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; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G775D (p.Gly775Asp) variant details
- p.Gly775Asp
- rs987780496
- ClinGen CA267845036
- ClinVar RCV001048856
- ClinVar RCV003128258
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.97
- CADD 25.30
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Tyrosinase-positive oculocutaneous albini)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Population evidence available
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)