W679C (p.Trp679Cys) variant of OCA2 (P protein)
W679C (p.Trp679Cys) 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; Oculocutaneous albinism; Tyrosinase-positive oculocutaneo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W679C (p.Trp679Cys) variant details
- p.Trp679Cys
- rs121918169
- ClinGen CA251639
- ClinVar RCV000001011
- ClinVar RCV001093225
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Oculocutaneous albinism; Tyrosinase-positive oculocutaneo
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.06
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Oculocutaneous albinism; Tyrosinase-posit)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (PMID 12876664)
- Cited in: Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. (PMID 10987646)