W554R (p.Trp554Arg) variant of OCA2 (P protein)
W554R (p.Trp554Arg) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W554R (p.Trp554Arg) variant details
- p.Trp554Arg
- rs1384042381
- ClinGen CA391366018
- ClinVar RCV000504873
- ClinVar RCV003322778
- Likely pathogenic
- OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.80
- CADD 29.40
- ClinVar: Likely pathogenic (OCA2-related disorder; Tyrosinase-positive oculocutaneous albini)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)