G657R (p.Gly657Arg) variant of OCA2 (P protein)
G657R (p.Gly657Arg) 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 0.85 / 1. The record also includes published literature and structural context.
G657R (p.Gly657Arg) variant details
- p.Gly657Arg
- rs879253729
- ClinGen CA10575784
- ClinVar RCV000234793
- Ensembl rs879253729
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.89
- CADD 28.90
- 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)