G657V (p.Gly657Val) variant of OCA2 (P protein)
G657V (p.Gly657Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G657V (p.Gly657Val) variant details
- p.Gly657Val
- rs957981838
- ClinGen CA391361384
- ClinVar RCV003734648
- ClinVar RCV006249901
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.84
- MetaSVM 0.89
- CADD 28.60
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)